Database SH2base
Version 1.2
File SH2pub.shtml
Date 22-Feb-2008
Curator Ilkka Lappalainen
Address Department of Chemistry, Cambridge University,
Address Lensfield Road, Cambridge CB2 1EW, United Kingdom
Phone +44 (0) 1223 336356
Fax +44 (0) 1223 336362
Email il215@cam.ac.uk
Curator Janita Thusberg
Address Institute of Medical Technology, University of Tampere
Address FI-33014 Tampere, Finland
Phone +358-3-3551 8595
Email janita.thusberg@uta.fi
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno.Vihinen@med.lu.se
URL http://structure.bmc.lu.se/idbase/SH2base/
Comments sequence entry reference in every entry
//
ID BTK_W281X(1); standard; MUTATION; SH2
Accession A0001
Original code B(II-1)
Description Nonsense mutation in the exon 10 leading to
Description stop codon in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7627183
RefAuthors Hagemann, T. L., Rosen, F. S., Kwan, S. P.
RefTitle Characterization of germline mutations of the gene
RefTitle encoding Bruton's tyrosine kinase in families with X-linked
RefTitle agammaglobulinemia
RefLoc Hum. Mutat. 5(1995)
DB CrossRef BTKbase; A0164
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62131
Feature /change: g -> a
Feature /genomic_region: exon; 10
Feature /RE: +AsuHPI, +HphI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 975
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 281
Feature /change: W -> X
Feature /domain: SH2
Protein struct Premature stop
Diagnosis Classical XLA
Sex XY
IgA nd
IgE nd
IgG <10%
IgM nd
B cells surf Ig nd
//
ID BTK_W281X(2a); standard; MUTATION; SH2
Accession A0002
Original code P4-1
Description Nonsense mutation in the exon 10 leading to
Description stop codon in SH2 domain
Date 26-Sep-1995 (Rel. 3, Created)
Date 09-Nov-1998 (Rel. 7, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8834236
RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R.,
RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle Mutations of the Btk gene in 12 unrelated families
RefTitle with X-linked agammaglobulinemia in Japan
RefLoc Hum. Genet. 97:424-430(1996)
RefNumber [2]
RefCrossRef PUBMED; 9427714
RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors Yoshizaki, K., Kishimoto, T.
RefTitle Deficient expression of Bruton's tyrosine kinase in
RefTitle monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle a flow cytometric analysis and its clinical application to
RefTitle carrier detection
RefLoc Blood 91:595-602(1998)
DB CrossRef BTKbase; A0207
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62131
Feature /change: g -> a
Feature /genomic_region: exon; 10
Feature /RE: +AsuHPI, +HphI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 975
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 281
Feature /change: W -> X
Feature /domain: SH2
Protein level Absent; ref [2]
Kinase activity Inactive; ref [2]
Protein struct Premature stop
Diagnosis Classical XLA
Sex XY
Age 7
Family history Inherited
Relative BTKbase; A0208 brother
IgA nd
IgM <0.39
B cells surf Ig 0
//
ID BTK_W281X(2b); standard; MUTATION; SH2
Accession A0003
Original code P4-2
Description Nonsense mutation in the exon 10 leading to
Description stop codon in SH2 domain
Date 26-Sep-1995 (Rel. 3, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8834236
RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R.,
RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle Mutations of the Btk gene in 12 unrelated families
RefTitle with X-linked agammaglobulinemia in Japan
RefLoc Hum. Genet. 97:424-430(1996)
DB CrossRef BTKbase; A0208
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62131
Feature /change: g -> a
Feature /genomic_region: exon; 10
Feature /RE: +AsuHPI, +HphI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 975
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 281
Feature /change: W -> X
Feature /domain: SH2
Protein struct Premature stop
Diagnosis Classical XLA
Sex XY
Age 3.92
Relative BTKbase; A0207 brother
IgA <0.10
IgM <0.10
B cells surf Ig 0
//
ID BTK_W281X(3); standard; MUTATION; SH2
Accession A0004
Original code JT
Description Nonsense mutation in the exon 10 leading to
Description stop codon in SH2 domain
Date 26-Oct-1998 (Rel. 6, Created)
Date 26-Oct-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-Oct-1998) to BTKbase.
RefLoc Prof. Hans D. Ochs; Department of Pediatrics, Box
RefLoc 356320, University of Washington, School of Medicine
RefLoc Seattle, WA 98195-6320; fax 206 543 3184;
RefLoc e-mail allgau@u.washington.edu
DB CrossRef BTKbase; A0537
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62131
Feature /change: g -> a
Feature /genomic_region: exon;10
Feature /RE: +AsuHPI, +HphI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 975
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation, premature termination
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 281
Feature /change: W -> X
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_W281X(4); standard; MUTATION; SH2
Accession A0005
Systematic name g.62131G>A, c.843G>A, r.843g>a, p.Trp281X
Original code P2
Description A point mutation in the exon 10 leading to a premature stop
Description codon in the SH2 domain
Date 13-Apr-2006 (Rel. 8, Created)
Date 13-Apr-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16053733
RefAuthors Wang, X. C., Wang, Y., Kanegane, H., Toshio, M., Yu, Y. H.
RefTitle Gene diagnosis of X-linked agammaglobulinemia
RefLoc Zhonghua Er Ke Za Zhi 43:449-452 (2005)
DB CrossRef BTKbase; A1065
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62131
Feature /change: g -> a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 975
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 281
Feature /change: W -> X
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_#H285X286(2); standard; MUTATION; SH2
Accession A0006
Systematic name g.62142delA, c.854delA, r.854dela, p.His285fsX1
Original code 1108 285
Description A frame shift deletion mutation in the exon 10 leading to a
Description premature stop codon in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1109
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62142
Feature /change: -a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 986
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 285
Feature /change: H -> PX
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_#M286X291(1); standard; MUTATION; SH2
Accession A0007
Systematic name g.62144_62145delAT, c.856_857delAT, r.856_857delau,
Systematic name p.Met286fsX5
Original code 1109 265
Description A frame shift deletion mutation in the exon 10 leading to a
Description premature stop codon in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1110
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62144..62145
Feature /change: -at
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 988..989
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 286
Feature /change: M -> DSESGX
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_@M286+1(1); standard; MUTATION; SH2
Accession A0008
Systematic name g.62145_62155delinsGGTGGTATTCCAAA,
Systematic name c.857_867delinsGGTGGTATTCCAAA,
Systematic name r.857_867delinsggugguauuccaaa,
Systematic name p.His285_Met286insArgTrpTyrSerLys
Original code P3
Description An indel mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 24-May-2006 (Rel. 8, Created)
Date 24-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16712653
RefAuthors Chan, K. W., Chen, T., Jiang, L., Fok, S. F., Lee, T. L.,
RefAuthors Lee, B. W., Yang, X., Lau, Y. L.
RefTitle Identification of bruton tyrosine kinase mutations in 12
RefTitle chinese patients with X-linked agammaglobulinaemia by long
RefTitle PCR-direct sequencing.
RefLoc Int J Immunogenet 33:205-209 (2006)
DB CrossRef BTKbase; A1187
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: EMBL: U78027: 62145
Feature /change: tgactcggag t -> ggtggtattc caaa
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe insertion
Feature /loc: EMBL: X58957; GI:312466; HSATK: 989
Feature aa; 3
Feature /rnalink: 2
Feature /name: insertion; inframe
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 286..289
Feature /change: MTRS -> RWYSK
Feature /domain: SH2
Diagnosis Classical XLA
Age 9
Sex XY
Ethnic origin Mongoloid
Family history Inherited
IgA <0.67
IgG 1.94
IgM <0.18
B cells 0
//
ID BTK_R288Q(1); standard; MUTATION; SH2
Accession A0009
Original code 1110
Description Point in the exon 10 causing amino acid change in
Description domain SH2
Date 28-Apr-1998 (Rel. 6, Created)
Date 28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors Y., Rohrer, J.
RefTitle Mutations in Btk patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0490
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62151
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon;10
Feature /RE: +BseMII, +BstDEI, +DdeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> Q
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Family history De novo
//
ID BTK_R288Q(2); standard; MUTATION; SH2
Accession A0010
Original code 1111
Description Point in the exon 10 causing amino acid change in
Description domain SH2
Date 28-Apr-1998 (Rel. 6, Created)
Date 05-Nov-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors Y., Rohrer, J.
RefTitle Mutations in Btk patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0491
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62151
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 10
Feature /RE: +BseMII, +BstDEI, +DdeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> Q
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Family history De novo
//
ID BTK_R288Q(3); standard; MUTATION; SH2
Accession A0011
Original code A.T.
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 16-Aug-1999 (Rel. 7, Created)
Date 16-Aug-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Jul-1999) to the BTKbase.
RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc e-mail maryellen.conley@stjude.org
DB CrossRef BTKbase; A0570
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62151
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> Q
Feature /domain: SH2
Family history De novo
//
ID BTK_R288Q(4); standard; MUTATION; SH2
Accession A0012
Original code R.C.
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 16-Aug-1999 (Rel. 7, Created)
Date 16-Aug-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Jul-1999) to the BTKbase.
RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc e-mail maryellen.conley@stjude.org
DB CrossRef BTKbase; A0571
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62151
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> Q
Feature /domain: SH2
Family history De novo
//
ID BTK_R288Q(6); standard; MUTATION; SH2
Accession A0013
Systematic name g.62151G>A, c.863G>A, r.863g>a, p.Arg288Gln
Original code Patient 20
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 23-Jun-2004 (Rel. 7, Created)
Date 23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0959
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62151
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> Q
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
//
ID BTK_R288Q(7); standard; MUTATION; SH2
Accession A0014
Systematic name g.62151G>A, c.863G>A, r.863g>a, p.Arg288Gln
Original code 1113 171
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1112
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62151
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> Q
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_R288Q(8); standard; MUTATION; SH2
Accession A0015
Systematic name g.62151G>A, c.863G>A, r.863g>a, p.Arg288Gln
Original code 1114 192
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1113
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62151
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> Q
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_R288W(1); standard; MUTATION; SH2
Accession A0016
Original code 276
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8162056
RefAuthors Bradley, L.A.D., Sweatman, A.K., Lovering, R.C., Jones,
RefAuthors A.M., Morgan, G., Levinsky, R.J., Kinnon, C.
RefTitle Mutation detection in the X-linked agammaglobulinemia
RefTitle gene, BTK, using single strand conformation polymorphism
RefTitle analysis
RefLoc Hum. Molec. Genet. 3:79-83(1994)
RefNumber [2]
RefCrossRef PUBMED; 8162018
RefAuthors de Weers, M., Mensink, R. G. J., Kraakman, M. E. M.,
RefAuthors Schuurman, R. K. B., Hendriks, R. W.
RefTitle Mutation analysis of the Bruton's tyrosine kinase gene in
RefTitle X-linked agammaglobulinemia: identification of a mutation
RefTitle which affects the same codon as is altered in
RefTitle immunodeficient xid mice
RefLoc Hum. Molec. Genet. 3:161-166(1994)
RefNumber [3]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef OMIM; 300300.0025
DB CrossRef SWISSCHANGE; BTK_HUMAN_20
DB CrossRef SWISS-PROT; Q06187:288_288
DB CrossRef BTKbase; A0014
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature /RE: +CjeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [3]
Diagnosis Mild XLA
Sex XY
Age 12
Family history Inherited
IgA nd
IgG 2.75
IgM nd
B cells surf Ig 2
Comment -!-Family history: large pedigree, 8 patients
//
ID BTK_R288W(2); standard; MUTATION; SH2
Accession A0017
Original code 11/37
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7711734
RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G.,
RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,
RefAuthors Fischer, A., Smith, C. I. E.
RefTitle DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle in patients with X-linked agammaglobulinemia
RefLoc Hum. Molec. Genet. 4:51-58(1995)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_20
DB CrossRef SWISS-PROT; Q06187:288_288
DB CrossRef BTKbase; A0114
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature /RE: +CjeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Sex XY
//
ID BTK_R288W(3a); standard; MUTATION; SH2
Accession A0018
Original code 15; R288W(3)
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (24-05-1995) to the BTKbase.
RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of
RefLoc Washington, Seattle, WA 98195, USA;
RefLoc e-mail allgau@u.washington.edu
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_20
DB CrossRef SWISS-PROT; Q06187:288_288
DB CrossRef BTKbase; A0179
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature /RE: +CjeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis Classical XLA
Sex XY
Relative BTKbase; A0459 brother
//
ID BTK_R288W(3b); standard; MUTATION; SH2
Accession A0019
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 23-Sep-1995 (Rel. 5, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (24-05-1995) to the BTKbase.
RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of
RefLoc Washington, Seattle, WA 98195, USA;
RefLoc e-mail allgau@u.washington.edu
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_20
DB CrossRef SWISS-PROT; Q06187:288_288
DB CrossRef BTKbase; A0459
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature /RE: +CjeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis Classical XLA
Sex XY
Relative BTKbase; A0179 brother
//
ID BTK_R288W(4); standard; MUTATION; SH2
Accession A0020
Original code 22
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (24-May-1995) to the BTKbase.
RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of
RefLoc Washington, Seattle, WA 98195, USA;
RefLoc e-mail allgau@u.washington.edu
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_20
DB CrossRef SWISS-PROT; Q06187:288_288
DB CrossRef BTKbase; A0180
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature /RE: +CjeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis Classical XLA
Sex XY
//
ID BTK_R288W(5a); standard; MUTATION; SH2
Accession A0021
Original code P13-1
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 26-Sep-1995 (Rel. 3, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8834236
RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R.,
RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle Mutations of the Btk gene in 12 unrelated families
RefTitle with X-linked agammaglobulinemia in Japan
RefLoc Hum. Genet. 97:424-430(1996)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_20
DB CrossRef SWISS-PROT; Q06187:288_288
DB CrossRef BTKbase; A0209
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature /RE: +CjeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis Classical XLA
Sex XY
Age 5
Relative BTKbase; A0210 brother
IgA 0.062
IgG 1.16
IgM 0.02
B cells surf Ig 0
//
ID BTK_R288W(5b); standard; MUTATION; SH2
Accession A0022
Original code P13-2
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 26-Sep-1995 (Rel. 3, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8834236
RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R.,
RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle Mutations of the Btk gene in 12 unrelated families
RefTitle with X-linked agammaglobulinemia in Japan
RefLoc Hum. Genet. 97:424-430(1996)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_20
DB CrossRef SWISS-PROT; Q06187:288_288
DB CrossRef BTKbase; A0210
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature /RE: +CjeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis Mild XLA
Sex XY
Age 1.67
Relative BTKbase; A0209 brother
IgA <0.20
IgG 7.40
IgM 1.18
B cells surf Ig 6
//
ID BTK_R288W(6); standard; MUTATION; SH2
Accession A0023
Original code P40
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 09-May-1996 (Rel. 3, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (09-May-1996) to the BTKbase.
RefLoc Dr. Gary W. Litman; USF College of Medicine, Dept of
RefLoc Pediatrics, All Children Hospital, 801 Sixth Street
RefLoc South, St Petersburg, FL 33701-4899, USA
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_20
DB CrossRef SWISS-PROT; Q06187:288_288
DB CrossRef BTKbase; A0282
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature /RE: +CjeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis Classical XLA
Sex XY
Age 2
IgA 0.07
IgM 0.14
Symptoms Neutropenia on occasion
//
ID BTK_R288W(7); standard; MUTATION; SH2
Accession A0024
Original code G10325
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 07-Sep-1997 (Rel. 5, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Sep-1997) to the BTKbase.
RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH;
RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc e-mail T.Lester@ich.ucl.ac.uk
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_20
DB CrossRef SWISS-PROT; Q06187:288_288
DB CrossRef BTKbase; A0426
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature /RE: +CjeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /note: destroys HinfI site
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis Classical XLA
Sex XY
Family history Inherited
//
ID BTK_R288W(8); standard; MUTATION; SH2
Accession A0025
Original code G11335
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 07-Sep-1997 (Rel. 5, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Sep-1997) to the BTKbase.
RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH;
RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc e-mail T.Lester@ich.ucl.ac.uk
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_20
DB CrossRef SWISS-PROT; Q06187:288_288
DB CrossRef BTKbase; A0427
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature /RE: +CjeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /note: destroys HinfI site
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; England
Family history Inherited
Comment -!-Family history: sporadic case, not known if mother
Comment -!-Family history: carries mutation
//
ID BTK_R288W(9); standard; MUTATION; SH2
Accession A0026
Original code G14842
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 07-Sep-1997 (Rel. 5, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Sep-1997) to the BTKbase.
RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH;
RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc e-mail T.Lester@ich.ucl.ac.uk
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_20
DB CrossRef SWISS-PROT; Q06187:288_288
DB CrossRef BTKbase; A0428
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature /RE: +CjeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /note: destroys HinfI site
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Mallorca
Family history Inherited
CD19 <1
Comment -!-General: Low Ig
//
ID BTK_R288W(10); standard; MUTATION; SH2
Accession A0027
Original code TK
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 26-Oct-1998 (Rel. 6, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-Oct-1998) to BTKbase.
RefLoc Prof. Hans D. Ochs; Department of Pediatrics, Box
RefLoc 356320, University of Washington, School of Medicine
RefLoc Seattle, WA 98195-6320; fax 206 543 3184;
RefLoc e-mail allgau@u.washington.edu
DB CrossRef SWISSCHANGE; BTK_HUMAN_20
DB CrossRef SWISS-PROT; Q06187:288_288
DB CrossRef BTKbase; A0540
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62151
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon;10
Feature /RE: +BseMII, +BstDEI, +DdeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 995
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> Q
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_R288W(11a); standard; MUTATION; SH2
Accession A0028
Original code JLMS
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 31-May-2000 (Rel. 7, Created)
Date 31-May-2000 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (31-May-2000) to BTKbase.
RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan
RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz.
RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095;
RefLoc e-mail mcruzgarcia@hulp.insalud.es
RefNumber [2]
RefCrossRef PUBMED; 11438999
RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira
RefAuthors Cerdan, A., Fontan Casariego, G.
RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in
RefTitle Spain
RefLoc Hum. Mut. 18:84 (2001)
DB CrossRef BTKbase; A0634
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Mild XLA
Sex XY
Age 9
Ethnic origin Caucasian; Spain
Family history Inherited
Relative BTKbase; A0635 first degree cousin
Relative BTKbase; A0636 second degree cousin
IgA 2.33
IgE 270 UI
IgG 2.2
IgM 0.25
B cells surf Ig 0
CD19 0
CD20 0
Symptoms Pneumonies
Comment -!-Relative: Two cousins and one brother deceased at early
Comment -!-Relative: age by infectious disease. Two cousins
Comment -!-Relative: diagnosed of XLA
//
ID BTK_R288W(11b); standard; MUTATION; SH2
Accession A0029
Original code JAS
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 31-May-2000 (Rel. 7, Created)
Date 31-May-2000 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (31-May-2000) to BTKbase.
RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan
RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz.
RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095;
RefLoc e-mail mcruzgarcia@hulp.insalud.es
RefNumber [2]
RefCrossRef PUBMED; 11438999
RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira
RefAuthors Cerdan, A., Fontan Casariego, G.
RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in
RefTitle Spain
RefLoc Hum. Mut. 18:84 (2001)
DB CrossRef BTKbase; A0635
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Age 7
Ethnic origin Caucasian; Spain
Family history Inherited
Relative BTKbase; A0634 first degree cousin
Relative BTKbase; A0636 second degree cousin
IgA 0
IgE 6 UI
IgG 2.95
IgM 0.16
B cells surf Ig 0
CD19 0
CD20 0
Symptoms Otitis and pneumonies. Viral meningitis
Comment -!-Relative: Three cousins deceased at early
Comment -!-Relative: age by infectious disease. Two cousins
Comment -!-Relative: diagnosed of XLA
//
ID BTK_R288W(11c); standard; MUTATION; SH2
Accession A0030
Original code JSM
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 31-May-2000 (Rel. 7, Created)
Date 31-May-2000 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (31-May-2000) to BTKbase.
RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan
RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz.
RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095;
RefLoc e-mail mcruzgarcia@hulp.insalud.es
RefNumber [2]
RefCrossRef PUBMED; 11438999
RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira
RefAuthors Cerdan, A., Fontan Casariego, G.
RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in
RefTitle Spain
RefLoc Hum. Mut. 18:84 (2001)
DB CrossRef BTKbase; A0636
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Age 7 months
Ethnic origin Caucasian; Spain
Family history Inherited
Relative BTKbase; A0634 second degree cousin
Relative BTKbase; A0635 second degree cousin
IgA 0
IgE 0
IgG 0.33
IgM 0.04
B cells surf Ig 0
CD19 0
CD20 0
Symptoms Otitis, sepsis, neutropaenia
Comment -!-Relative: Three cousins deceased at early
Comment -!-Relative: age by infectious disease. Two cousins
Comment -!-Relative: diagnosed of XLA
//
ID BTK_R288W(12a); standard; MUTATION; SH2
Accession A0031
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code Patient No 9a
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 22-Jun-2004 (Rel. 7, Created)
Date 22-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15024743
RefAuthors Velickovic, M., Prasad, M. L., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Identification of the bruton tyrosine kinase (BTK) gene
RefTitle mutations in 20 australian families with X-linked
RefTitle agammaglobulinemia (XLA).
RefLoc Hum Mutat 23:398-399 (2004)
DB CrossRef BTKbase; A0926
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Australia
Family history Inherited
Relative BTKbase; A0927 brother
Relative BTKbase; A0928 brother
//
ID BTK_R288W(12b); standard; MUTATION; SH2
Accession A0032
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code Patient No 9b
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 22-Jun-2004 (Rel. 7, Created)
Date 22-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15024743
RefAuthors Velickovic, M., Prasad, M. L., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Identification of the bruton tyrosine kinase (BTK) gene
RefTitle mutations in 20 australian families with X-linked
RefTitle agammaglobulinemia (XLA).
RefLoc Hum Mutat 23:398-399 (2004)
DB CrossRef BTKbase; A0927
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Australia
Family history Inherited
Relative BTKbase; A0926 brother
Relative BTKbase; A0928 brother
//
ID BTK_R288W(12c); standard; MUTATION; SH2
Accession A0033
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code Patient No 9c
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 22-Jun-2004 (Rel. 7, Created)
Date 22-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15024743
RefAuthors Velickovic, M., Prasad, M. L., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Identification of the bruton tyrosine kinase (BTK) gene
RefTitle mutations in 20 australian families with X-linked
RefTitle agammaglobulinemia (XLA).
RefLoc Hum Mutat 23:398-399 (2004)
DB CrossRef BTKbase; A0928
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Australia
Family history Inherited
Relative BTKbase; A0926 brother
Relative BTKbase; A0927 brother
//
ID BTK_R288W(13); standard; MUTATION; SH2
Accession A0034
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code Patient No 10
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 22-Jun-2004 (Rel. 7, Created)
Date 22-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15024743
RefAuthors Velickovic, M., Prasad, M. L., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Identification of the bruton tyrosine kinase (BTK) gene
RefTitle mutations in 20 australian families with X-linked
RefTitle agammaglobulinemia (XLA).
RefLoc Hum Mutat 23:398-399 (2004)
DB CrossRef BTKbase; A0929
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Australia
Family history Not known
//
ID BTK_R288W(14a); standard; MUTATION; SH2
Accession A0035
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code Patient 17a
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 23-Jun-2004 (Rel. 7, Created)
Date 23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0954
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative BTKbase; A0955
//
ID BTK_R288W(14b); standard; MUTATION; SH2
Accession A0036
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code Patient 17b
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 23-Jun-2004 (Rel. 7, Created)
Date 23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0955
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative BTKbase; A0954
//
ID BTK_R288W(15a); standard; MUTATION; SH2
Accession A0037
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code Patient 18a
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 23-Jun-2004 (Rel. 7, Created)
Date 23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0956
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative BTKbase; A0957
//
ID BTK_R288W(15b); standard; MUTATION; SH2
Accession A0038
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code Patient 18b
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 23-Jun-2004 (Rel. 7, Created)
Date 23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0957
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative BTKbase; A0956
//
ID BTK_R288W(16); standard; MUTATION; SH2
Accession A0039
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code Patient 19
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 23-Jun-2004 (Rel. 7, Created)
Date 23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0958
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
//
ID BTK_R288W(17); standard; MUTATION; SH2
Accession A0040
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code P9
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 28-Jun-2004 (Rel. 7, Created)
Date 28-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11742281
RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K.,
RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S.,
RefAuthors Miyawaki, T.
RefTitle Clinical and mutational characteristics of X-linked
RefTitle agammaglobulinemia and its carrier identified by flow
RefTitle cytometric assessment combined with genetic analysis.
RefLoc J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef BTKbase; A0993
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Age 4
Sex XY
Ethnic origin Mongoloid; Japan
Family history De novo
IgA 0.03
IgG 0.07
IgM 0.02
//
ID BTK_R288W(18); standard; MUTATION; SH2
Accession A0041
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code P10
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 28-Jun-2004 (Rel. 7, Created)
Date 28-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11742281
RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K.,
RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S.,
RefAuthors Miyawaki, T.
RefTitle Clinical and mutational characteristics of X-linked
RefTitle agammaglobulinemia and its carrier identified by flow
RefTitle cytometric assessment combined with genetic analysis.
RefLoc J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef BTKbase; A0994
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
Age 6
Sex XY
Ethnic origin Mongoloid; Japan
Family history De novo
IgA 0.12
IgG 0.70
IgM 0.16
//
ID BTK_R288W(19); standard; MUTATION; SH2
Accession A0042
Systematic name g.62150C>T, c.862C>T, r.862c>u, p.Arg288Trp
Original code 1112 126
Description A point mutation in the exon 10 leading to an amino acid
Description change in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1111
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62150
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288
Feature /change: R -> W
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_#R288X294(1); standard; MUTATION; SH2
Accession A0043
Original code W.Y.
Description Frameshift deletion in the exon 10 leading to
Description stop codon in SH2 domain
Date 16-Aug-1999 (Rel. 7, Created)
Date 16-Aug-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Jul-1999) to the BTKbase.
RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc e-mail maryellen.conley@stjude.org
DB CrossRef BTKbase; A0572
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 46335..46338
Feature /change: -cgga
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994..997
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 288..289
Feature /change: RS -> VRLSNCX
Feature /domain: SH2
Family history De novo
//
ID BTK_#R288X294(2); standard; MUTATION; SH2
Accession A0044
Systematic name g.62150_62153delCGGA, c.862_865delCGGA, r.862_865delcgga,
Systematic name p.Arg288fsX6
Original code 1117 117
Description A frame shift deletion mutation in the exon 10 leading to a
Description premature stop codon in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1114
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62150..62153
Feature /change: -cgga
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 994..997
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 288..289
Feature /change: RS -> VRLSNCX
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_Q293X(1); standard; MUTATION; SH2
Accession A0045
Original code 14
Description Nonsense mutation in the exon 10 leading to
Description stop codon in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7633420
RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P.,
RefAuthors Vorechovsky, I., Hammarstrom, L., Bernatowska-
RefAuthors Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors Vetrie, D.
RefTitle Identification of Btk mutations in 20 unrelated patients
RefTitle with X-linked agammaglobulinemia (XLA)
RefLoc Hum. Molec. Genet. 4: 693-700(1995)
DB CrossRef BTKbase; A0132
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62165
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature /RE: +MaeIII,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1009
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 293
Feature /change: Q -> X
Feature /domain: SH2
Protein struct Premature stop
Diagnosis Classical XLA
Sex XY
Age <1
Family history Inherited
IgA <0.1
IgG 0.7
IgM <0.1
B cells surf Ig <1
//
ID BTK_Q293X(2); standard; MUTATION; SH2
Accession A0046
Original code BTK 18
Description Nonsense mutation in the exon 10 leading to
Description stop codon in SH2 domain
Date 22-Sep-2000 (Rel. 7, Created)
Date 22-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10859027
RefAuthors Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K.,
RefAuthors Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras,
RefAuthors P., Finocchi, A., Livadiotti, S., Rossi, P.
RefTitle X-chromosome inactivation and mutation pattern in the
RefTitle Bruton's tyrosine kinase gene in patients with X-linked
RefTitle agammaglobulinemia. Italian XLA Collaborative Group
RefLoc Mol. Med. 6:104-113(2000)
DB CrossRef BTKbase; A0699
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62165
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1009
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 293
Feature /change: Q -> X
Feature /domain: SH2
Sex XY
//
ID BTK_L295P(1a); standard; MUTATION; SH2
Accession A0047
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 23-Aug-1996 (Rel. 4, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8723128
RefAuthors Schuster, V., Seidenspinner, S., Kreth, H.W.
RefTitle Detection of a novel mutation in the SRC homology domain
RefTitle 2 (SH2) of Bruton's tyrosine kinase and direct female
RefTitle carrier evaluation in a family with X-linked
RefTitle agammaglobulinemia
RefLoc Am. J. Med. Gen. 63:318-322(1996)
DB CrossRef SWISSCHANGE; BTK_HUMAN_21
DB CrossRef SWISS-PROT; Q06187:295_295
DB CrossRef BTKbase; A0325
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62172
Feature /change: t -> c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1016
Feature /codon: cta -> cca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 295
Feature /change: L -> P
Feature /domain: SH2
Sex XY
Age 5
Family history Inherited
Relative BTKbase; A0326 brother
IgA 0.07
IgG 1.70
IgM 0.27
CD19 <1
//
ID BTK_L295P(1b); standard; MUTATION; SH2
Accession A0048
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 23-Aug-1996 (Rel. 4, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8723128
RefAuthors Schuster, V., Seidenspinner, S., Kreth, H.W.
RefTitle Detection of a novel mutation in the SRC homology domain
RefTitle 2 (SH2) of Bruton's tyrosine kinase and direct female
RefTitle carrier evaluation in a family with X-linked
RefTitle agammaglobulinemia
RefLoc Am. J. Med. Gen. 63:318-322(1996)
DB CrossRef SWISSCHANGE; BTK_HUMAN_21
DB CrossRef SWISS-PROT; Q06187:295_295
DB CrossRef BTKbase; A0326
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62172
Feature /change: t -> c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1016
Feature /codon: cta -> cca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 295
Feature /change: L -> P
Feature /domain: SH2
Sex XY
Age 0.33
Family history Inherited
Relative BTKbase; A0325 brother
IgA 0.08
IgG 1.75
IgM 0.20
B cells surf Ig 3
//
ID BTK_L295P(2); standard; MUTATION; SH2
Accession A0049
Original code 21 ref. [2]
Description Missense mutation in exon 10 leading to
Description amino acid change in SH2 domain
Date 15-May-1997 (Rel. 4, Created)
Date 21-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (27-Aug-1996) to the BTKbase.
RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches
RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany;
RefLoc FAX 498 951 604 928;
RefNumber [2]
RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336
RefLoc Munchen, Germany;
RefNumber [2]
RefCrossRef PUBMED; 9445504
RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R.,
RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle Mutation screening of the btk gene in 56 families with
RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle without correlation to clinical course
RefLoc Pediatrics 101:276-284(1998)
DB CrossRef SWISSCHANGE; BTK_HUMAN_21
DB CrossRef SWISS-PROT; Q06187:295_295
DB CrossRef BTKbase; A0375
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62172
Feature /change: t -> c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1016
Feature /codon: cta -> cca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 295
Feature /change: L -> P
Feature /domain: SH2
Protein struct Invariant, change in the hydrophobic cluster in the domain
Protein struct center leads to structural alteration; ref [2]
Sex XY
//
ID BTK_#L295X330(1); standard; MUTATION; SH2
Accession A0050
Original code 5
Description Frameshift deletion in the exon 10 leading to
Description stop codon in SH2 domain
Date 30-Nov-1999 (Rel. 7, Created)
Date 04-Oct-2001 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10737994
RefCrossRef Human Mutation, Mutation in Brief #312 (2000) Online
RefAuthors Yip, K. L., Chan, S. Y., Ip, W. K., Lau, Y. L.
RefTitle Bruton's tyrosine kinase mutations in 8 chinese families
RefTitle with X-linked agammaglobulinemia
RefLoc Hum. Mutat. 15:355 (2000)
DB CrossRef BTKbase; A0630
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62173
Feature /change: -a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1017
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 295
Feature /change: L -> LSKRGKKEVS LSETPAKLAN IQCLCLLNPQ GTLKGX
Feature /domain: SH2
//
ID BTK_Q297X(1); standard; MUTATION; SH2
Accession A0051
Systematic name g.62177C>T, c.1021C>T, p.Q297X
Original code P13
Description Point mutation in the exon 10 leading to a premature stop
Description codon in the SH2 domain
Date 17-Jul-2003 (Rel. 7, Created)
Date 17-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12655572
RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M.,
RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M.,
RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M.,
RefAuthors Zelazko, M.
RefTitle Bruton tyrosine kinase gene mutations in argentina.
RefLoc Hum Mutat 21:451 (2003)
DB CrossRef BTKbase; A0880
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62177
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1021
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 297
Feature /change: Q -> X
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Argentina
Family history De novo
//
ID BTK_#G299X321(1a); standard; MUTATION; SH2
Accession A0052
Systematic name g.62779_62858del, c.895_974del, r.895_974del, p.Lys300fsX21
Original code P55-1
Description A frame shift deletion mutation in the exon 11 leading to a
Description premature stop codon in the SH2 domain
Date 29-Jun-2004 (Rel. 7, Created)
Date 29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11742281
RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K.,
RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S.,
RefAuthors Miyawaki, T.
RefTitle Clinical and mutational characteristics of X-linked
RefTitle agammaglobulinemia and its carrier identified by flow
RefTitle cytometric assessment combined with genetic analysis.
RefLoc J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef BTKbase; A1033
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62779..62858
Feature /change: -gggaaagaag gaggtttcat tgtcagagac tccagcaaag
Feature /change: ctggcaaata tacagtgtct gtgtttgcta aatccacagg
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1027..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 299..325
Feature /change: GKEGGFIVRD SSKAGKYTVS VFAKSTG ->
Feature /change: GPSRGDTSLC CVFHTSEPVL PGX
Feature /domain: SH2
Diagnosis Classical XLA
Age 2
Sex XY
Ethnic origin Mongoloid; Japan
Family history Inherited
Relative BTKbase; A1034 uncle
IgA 0.02
IgG 0.63
IgM 0.04
//
ID BTK_#G299X321(1b); standard; MUTATION; SH2
Accession A0053
Systematic name g.62779_62858del, c.895_974del, r.895_974del, p.Lys300fsX21
Original code P55-2
Description A frame shift deletion mutation in the exon 11 leading to a
Description premature stop codon in the SH2 domain
Date 29-Jun-2004 (Rel. 7, Created)
Date 29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11742281
RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K.,
RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S.,
RefAuthors Miyawaki, T.
RefTitle Clinical and mutational characteristics of X-linked
RefTitle agammaglobulinemia and its carrier identified by flow
RefTitle cytometric assessment combined with genetic analysis.
RefLoc J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef BTKbase; A1034
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62779..62858
Feature /change: -gggaaagaag gaggtttcat tgtcagagac tccagcaaag
Feature /change: ctggcaaata tacagtgtct gtgtttgcta aatccacagg
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1027..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 299..325
Feature /change: GKEGGFIVRD SSKAGKYTVS VFAKSTG ->
Feature /change: GPSRGDTSLC CVFHTSEPVL PGX
Feature /domain: SH2
Diagnosis Classical XLA
Age 1
Sex XY
Ethnic origin Mongoloid; Japan
Family history Inherited
Relative BTKbase; A1033 nephew
IgA <0.05
IgG 1.70
IgM 0.42
//
ID BTK_#E301-1(1); standard; MUTATION; SH2
Accession A0054
Systematic name g.62785_62787delGAA, c.901_903delGAA, r.901_903delgaa,
Systematic name p.Glu301del
Original code P56
Description An inframe deletion in the exon 11 leading to an amino acid
Description change in the SH2 domain
Date 29-Jun-2004 (Rel. 7, Created)
Date 29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11742281
RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K.,
RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S.,
RefAuthors Miyawaki, T.
RefTitle Clinical and mutational characteristics of X-linked
RefTitle agammaglobulinemia and its carrier identified by flow
RefTitle cytometric assessment combined with genetic analysis.
RefLoc J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef BTKbase; A1035
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62785..62787
Feature /change: -gaa
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1033..1035
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 301
Feature /change: -E
Feature /domain: SH2
Diagnosis Classical XLA
Age 5
Sex XY
Ethnic origin Mongoloid; Japan
Family history Inherited
IgA 0.07
IgM 0.08(25y)
//
ID BTK_G302E(4); standard; MUTATION; SH2
Accession A0055
Systematic name g.62789G>A, c.905G>A, r.905g>a, p.Gly302Glu
Original code Patient 21
Description A point mutation in the exon 11 leading to an amino acid
Description change in the SH2 domain
Date 23-Jun-2004 (Rel. 7, Created)
Date 23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0960
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62789
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1037
Feature /codon: gga -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature /change: G -> E
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
//
ID BTK_G302R(2a); standard; MUTATION; SH2
Accession A0056
Systematic name g.62788G>A, c.904G>A, r.904g>a, p.Gly302Arg
Original code Patient No 11a
Description A point mutation in the exon 11 leading to an amino acid
Description change in the SH2 domain
Date 22-Jun-2004 (Rel. 7, Created)
Date 22-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15024743
RefAuthors Velickovic, M., Prasad, M. L., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Identification of the bruton tyrosine kinase (BTK) gene
RefTitle mutations in 20 australian families with X-linked
RefTitle agammaglobulinemia (XLA).
RefLoc Hum Mutat 23:398-399 (2004)
DB CrossRef BTKbase; A0930
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62788
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1036
Feature /codon: gga -> aga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature /change: G -> R
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Australia
Family history Inherited
Relative BTKbase; A0931 uncle
//
ID BTK_G302R(2b); standard; MUTATION; SH2
Accession A0057
Systematic name g.62788G>A, c.904G>A, r.904g>a, p.Gly302Arg
Original code Patient No 11b
Description A point mutation in the exon 11 leading to an amino acid
Description change in the SH2 domain
Date 22-Jun-2004 (Rel. 7, Created)
Date 22-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15024743
RefAuthors Velickovic, M., Prasad, M. L., Weston, S. A., Benson, E.
RefAuthors M.
RefTitle Identification of the bruton tyrosine kinase (BTK) gene
RefTitle mutations in 20 australian families with X-linked
RefTitle agammaglobulinemia (XLA).
RefLoc Hum Mutat 23:398-399 (2004)
DB CrossRef BTKbase; A0931
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62788
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1036
Feature /codon: gga -> aga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature /change: G -> R
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Australia
Family history Inherited
Relative BTKbase; A0930 nephew
//
ID BTK_#G302-1(1); standard; MUTATION; SH2
Accession A0058
Original code AC; 11
Description Inframe deletion in the exon 11 in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7633429
RefAuthors Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R.
RefAuthors C., Roifman, C. M., Morgan, G., Levinsky, R. J.,
RefAuthors Kinnon, C.
RefTitle Mutation analysis in Bruton's tyrosine kinase, the X-linked
RefTitle agammaglobulinemia, including identification of an
RefTitle insertional hotspot
RefLoc Hum. Molec. Genet. 4: 755-757(1995)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_22
DB CrossRef SWISS-PROT; Q06187:302_302
DB CrossRef BTKbase; A0154
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62787..62789
Feature /change: -agg
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe_deletion
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1035..1037
Feature aa; 3
Feature /rnalink: 2
Feature /name:
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature /change: -G
Feature /domain: SH2
Protein struct Disturbs beta-sheet structure; ref [2]
Diagnosis Classical XLA
Sex XY
//
ID BTK_#G302-1(2); standard; MUTATION; SH2
Accession A0059
Description Inframe deletion in the exon 11 in SH2 domain
Date 05-Apr-1996 (Rel. 4, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (01-Jan-1997) to the BTKbase.
RefLoc Dr. C.I.E. Smith; Center for BioTechnology, Department of
RefLoc Biosciences at Novum, Karolinska Institute, S-14157
RefLoc Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_22
DB CrossRef SWISS-PROT; Q06187:302_302
DB CrossRef BTKbase; A0291
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62787..62789
Feature /change: -agg
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe_deletion
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1035..1037
Feature aa; 3
Feature /rnalink: 2
Feature /name:
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature /change: -G
Feature /domain: SH2
Protein struct Disturbs beta-sheet structure; ref [2]
Sex XY
//
ID BTK_#G302-1(3); standard; MUTATION; SH2
Accession A0060
Systematic name g.62790_62792delAGG, c.1038_1040delAGG, p.G302del
Original code JGR
Description Deletion in the exon 11 leading to an amino acid change in
Description the SH2 domain
Date 30-Oct-2001 (Rel. 7, Created)
Date 30-Oct-2001 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (30-Oct-2001) to BTKbase.
RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan
RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz.
RefLoc Madrid 28046, Spain; Tel 91 7277095; Fax 91 7277095;
RefLoc e-mail mcruzgarcia@hulp.insalud.es
DB CrossRef BTKbase; A0803
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62790..62792
Feature /change: -agg
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1038..1040
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 302..303
Feature /change: GG -> G
Feature /domain: SH2
Diagnosis Classical XLA
Symptoms neumonia. diarrhea, meningitis, hepatitis (HVC)
Age 1
Ethnic origin Caucasoid; Spain
Family history De novo
IgA 0.016
IgG 0.045
IgM 0.095
CD19 0
//
ID BTK_G302E(1); standard; MUTATION; SH2
Accession A0061
Original code C(III-1)
Description Missense mutation in the exon 11 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7627183
RefAuthors Hagemann, T. L., Rosen, F. S., Kwan, S. P.
RefTitle Characterization of germline mutations of the gene
RefTitle encoding Bruton's tyrosine kinase in families with X-linked
RefTitle agammaglobulinemia
RefLoc Hum. Mutat. 5(1995)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_23
DB CrossRef SWISS-PROT; Q06187:302_302
DB CrossRef BTKbase; A0165
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62789
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature /RE: +MboII,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1037
Feature /codon: gga -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature /change: G -> E
Feature /domain: SH2
Protein struct Disturbs beta-sheet structure; ref [2]
Diagnosis Classical XLA
Sex XY
IgA nd
IgE nd
IgG <10%
IgM nd
B cells surf Ig nd
//
ID BTK_G302E(2); standard; MUTATION; SH2
Accession A0062
Original code P43
Description Missense mutation in the exon 11 leading to
Description amino acid change in SH2 domain
Date 09-May-1996 (Rel. 3, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (09-May-1996) to the BTKbase.
RefLoc Dr. Gary W. Litman; USF College of Medicine, Dept of
RefLoc Pediatrics, All Children Hospital, 801 Sixth Street
RefLoc South, St Petersburg, FL 33701-4899, USA
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_23
DB CrossRef SWISS-PROT; Q06187:302_302
DB CrossRef BTKbase; A0283
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62789
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature /RE: +MboII,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1037
Feature /codon: gga -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature /change: G -> E
Feature /domain: SH2
Protein struct Disturbs beta-sheet structure; ref [2]
Diagnosis Classical XLA
Sex XY
Age 8
IgA 0.07
IgM 0.10
Symptoms Neutropenia
//
ID BTK_G302E(3); standard; MUTATION; SH2
Accession A0063
Original code P32-1
Description Missense mutation in the exon 11 leading to
Description amino acid change in SH2 domain
Date 19-Aug-1996 (Rel. 4, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8695804
RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T.,
RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N.,
RefAuthors Kishimoto, T.
RefTitle Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle mutations and characterization of the derived proteins in
RefTitle 35 X-linked agammaglobulinemia families: a nationwide
RefTitle study of Btk deficiency in Japan
RefLoc Blood 88:561-573(1996)
RefNumber [2]
RefCrossRef PUBMED; 9427714
RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors Yoshizaki, K., Kishimoto, T.
RefTitle Deficient expression of Bruton's tyrosine kinase in
RefTitle monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle a flow cytometric analysis and its clinical application to
RefTitle carrier detection
RefLoc Blood 91:595-602(1998)
DB CrossRef SWISSCHANGE; BTK_HUMAN_23
DB CrossRef SWISS-PROT; Q06187:302_302
DB CrossRef BTKbase; A0306
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62789
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature /RE: +MboII,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1037
Feature /codon: gga -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature /change: G -> E
Feature /domain: SH2
Protein level Reduced; ref [2]
Kinase activity Reduced; ref [2]
Sex XY
Age 5
Ethnic origin Mongoloid; Japan
Family history Inherited
IgA <0.20
IgG 1.30
IgM 0.16
B cells surf Ig 0.3
Comment -!-Family history: one affected brother
//
ID BTK_G302R(1); standard; MUTATION; SH2
Accession A0064
Original code G14844
Description Missense mutation in the exon 11 leading to
Description amino acid change in SH2 domain
Date 07-Sep-1997 (Rel. 5, Created)
Date 20-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Sep-1997) to the BTKbase.
RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH;
RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc e-mail T.Lester@ich.ucl.ac.uk
DB CrossRef BTKbase; A0429
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62788
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1036
Feature /codon: gga -> aga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 302
Feature /change: G -> R
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Mallorca
Family history Inherited
CD19 <1
Comment -!-General: Low Ig
//
ID BTK_R307G(1); standard; MUTATION; SH2
Accession A0065
Original code JP
Description Missense mutation in the exon 11 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8162056
RefAuthors Bradley, L.A.D., Sweatman, A.K., Lovering, R.C., Jones,
RefAuthors A.M., Morgan, G., Levinsky, R.J., Kinnon, C.
RefTitle Mutation detection in the X-linked agammaglobulinemia
RefTitle gene, BTK, using single strand conformation polymorphism
RefTitle analysis
RefLoc Hum. Molec. Genet. 3:79-83(1994)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef OMIM; 300300.0026
DB CrossRef SWISSCHANGE; BTK_HUMAN_24
DB CrossRef SWISS-PROT; Q06187:307_307
DB CrossRef BTKbase; A0015
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62803
Feature /change: a -> g
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1051
Feature /codon: aga -> gga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 307
Feature /change: R -> G
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis Classical XLA
Sex XY
Family history De novo
IgA <0.2
IgG <1.0
IgM <0.1
B cells surf Ig <1
//
ID BTK_R307G(2); standard; MUTATION; SH2
Accession A0066
Original code 42
Description Missense mutation in the exon 11 leading to
Description amino acid change in SH2 domain
Date 02-Feb-1996 (Rel. 3, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9143921
RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S.,
RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R.,
RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in
RefTitle 26 unrelated patients with X-linked agammaglobulinemia
RefLoc Hum. Mut. 9:418-425 (1997)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef ESID; FI 0001 M68 G1
DB CrossRef SWISSCHANGE; BTK_HUMAN_24
DB CrossRef SWISS-PROT; Q06187:307_307
DB CrossRef BTKbase; A0234
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62803
Feature /change: a -> g
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1051
Feature /codon: aga -> gga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 307
Feature /change: R -> G
Feature /domain: SH2
mRNA level normal
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Sex XY
//
ID BTK_R307G(3); standard; MUTATION; SH2
Accession A0067
Systematic name g.62803A>G, c.919A>G, r.919a>g, p.Arg307Gly
Original code P11
Description A point mutation in the exon 11 leading to an amino acid
Description change in the SH2 domain
Date 28-Jun-2004 (Rel. 7, Created)
Date 28-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11742281
RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K.,
RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S.,
RefAuthors Miyawaki, T.
RefTitle Clinical and mutational characteristics of X-linked
RefTitle agammaglobulinemia and its carrier identified by flow
RefTitle cytometric assessment combined with genetic analysis.
RefLoc J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef BTKbase; A0995
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62803
Feature /change: a -> g
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1051
Feature /codon: aga -> gga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 307
Feature /change: R -> G
Feature /domain: SH2
Diagnosis Classical XLA
Age 15
Sex XY
Ethnic origin Mongoloid; Japan
Family history De novo
//
ID BTK_R307K(1); standard; MUTATION; SH2
Accession A0068
Systematic name g.62804G>A, c.1052G>A, p.R307K
Original code P14
Description Point mutation in the exon 11 leading to an amino acid
Description change in the SH2 domain
Date 17-Jul-2003 (Rel. 7, Created)
Date 17-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12655572
RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M.,
RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M.,
RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M.,
RefAuthors Zelazko, M.
RefTitle Bruton tyrosine kinase gene mutations in argentina.
RefLoc Hum Mutat 21:451 (2003)
DB CrossRef BTKbase; A0881
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62804
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1052
Feature /codon: aga -> aaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 307
Feature /change: R -> K
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Argentina
//
ID BTK_R307R(1); standard; MUTATION; SH2
Accession A0069
Systematic name g.62805A>G, c.921A>G, r.921a>g, p.Arg307Arg
Original code P12
Description A point mutation in the exon 11 leading to an amino acid
Description change in the SH2 domain
Date 28-Jun-2004 (Rel. 7, Created)
Date 28-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11742281
RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K.,
RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S.,
RefAuthors Miyawaki, T.
RefTitle Clinical and mutational characteristics of X-linked
RefTitle agammaglobulinemia and its carrier identified by flow
RefTitle cytometric assessment combined with genetic analysis.
RefLoc J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef BTKbase; A0996
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62805
Feature /change: a -> g
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1053
Feature /codon: aga -> agg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 307
Feature /change: R -> R
Feature /domain: SH2
Diagnosis Classical XLA
Age 6
Sex XY
Ethnic origin Mongoloid; Japan
Family history De novo
IgA 0.08
IgM 0.07(34y)
//
ID BTK_R307T(1); standard; MUTATION; SH2
Accession A0070
Original code 1160
Description Point mutation in the exon 11 causing amino acid change
Description in domain SH2
Date 28-Apr-1998 (Rel. 6, Created)
Date 28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors Y., Rohrer, J.
RefTitle Mutations in Btk patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0492
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62804
Feature /change: g -> c
Feature /genomic_region: exon;11
Feature /RE: +MaeIII, +Tsp45I,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1052
Feature /codon: aga -> aca; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 307
Feature /change: R -> T
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Family history Inherited
//
ID BTK_D308E(1); standard; mutation; SH2
Accession A0071
Original code 52-403
Description Point mutation in the exon 11 causing an amino acid change
Description in domain SH2
Date 01-Sep-1998 (Rel. 6, Created)
Date 01-Sep-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-Aug-1998) to the BTKbase.
RefLoc Ph.D. Sau-Ping Kwan; e-mail spkwan@rush.edu
DB CrossRef BTKbase; A0511
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62808
Feature /change: c -> g
Feature /genomic_region: exon;11
Feature /RE: +PleI, +PpsI, +SchI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1056
Feature /codon: gac -> gag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 308
Feature /change: D -> E
Feature /domain: SH2
//
ID BTK_#D308X321(1); standard; MUTATION; SH2
Accession A0072
Systematic name g.62806_62807delGA, c.922_923delGA, r.922_923delga,
Systematic name p.Asp308fsX13
Original code Patient 22
Description A frame shift deletion mutation in the exon 11 leading to a
Description premature stop codon in the SH2 domain
Date 23-Jun-2004 (Rel. 7, Created)
Date 23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0961
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62806..62807
Feature /change: -ga
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1054..1055
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 308
Feature /change: D -> LQQSWQIYSV CVCX
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Not known
//
ID BTK_#D308X321(2); standard; MUTATION; SH2
Accession A0073
Systematic name g.62806_62807delGA, c.922_923delGA, r.922_923delga,
Systematic name p.Asp308fsX13
Original code P4
Description A frame shift deletion mutation in the exon 11 leading to a
Description premature stop codon in the SH2 domain
Date 24-May-2006 (Rel. 8, Created)
Date 24-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16712653
RefAuthors Chan, K. W., Chen, T., Jiang, L., Fok, S. F., Lee, T. L.,
RefAuthors Lee, B. W., Yang, X., Lau, Y. L.
RefTitle Identification of bruton tyrosine kinase mutations in 12
RefTitle chinese patients with X-linked agammaglobulinaemia by long
RefTitle PCR-direct sequencing.
RefLoc Int J Immunogenet 33:205-209 (2006)
DB CrossRef BTKbase; A1188
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62806..62807
Feature /change: -ga
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1054..1055
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 308
Feature /change: D -> LQQSWQIYSV CVCX
Feature /domain: SH2
Diagnosis Classical XLA
Age 9
Sex XY
Ethnic origin Mongoloid
Family history Inherited
IgA <0.7
IgG <0.33
IgM 0.2
B cells 0
//
ID BTK_#G313X330(1); standard; MUTATION; SH2
Accession A0074
Original code 23/3
Description Frameshift deletion in the exon 11 leading to
Description stop codon in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7711734
RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G.,
RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,
RefAuthors Fischer, A., Smith, C. I. E.
RefTitle DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle in patients with X-linked agammaglobulinemia
RefLoc Hum. Molec. Genet. 4:51-58(1995)
DB CrossRef BTKbase; A0115
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62821
Feature /change: -g
Feature /genomic_region: exon; 11
Feature /RE: +CviRI, +Fnu4HI, +Fsp4HI, +ItaI, +TseI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1069
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 313
Feature /change: G -> ANIQCLCLLN PQGTLKGX
Feature /domain: SH2
Protein struct Premature stop
Sex XY
//
ID BTK_K314K(1); standard; MUTATION; SH2
Accession A0075
Original code 3
Description Point mutation in the exon 13 creating cryptic
Description splice site and leading to 37 bp deletion, frameshift and
Description stop codon in SH2 domain
Date 30-Nov-1999 (Rel. 7, Created)
Date 04-Oct-2001 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10737994
RefCrossRef Human Mutation, Mutation in Brief #312 (2000) Online
RefAuthors Yip, K. L., Chan, S. Y., Ip, W. K., Lau, Y. L.
RefTitle Bruton's tyrosine kinase mutations in 8 chinese families
RefTitle with X-linked agammaglobulinemia
RefLoc Hum. Mutat. 15:355 (2000)
DB CrossRef BTKbase; A0628
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62826
Feature /change: a -> g
Feature /genomic_region: exon; 11
Feature /note: cDNA location 1074
Feature /note: codon change aaa -> aag; 3
Feature /note: create an aberrant donor splice site gtataca
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1070..1106
Feature /change: - gcaaatatac agtgtctgtg tttgctaaat ccacagg
Feature /genomic_region: exon; 11
Feature /note: deletion of last 37 bp in exon 11
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 313..325
Feature /change: GKYTVSVFAKSTG -> GTLKGX
Feature /domain: SH2
//
ID BTK_#K314X330(1); standard; MUTATION; SH2
Accession A0076
Systematic name g.62826delA, c.942delA, r.942dela, p.Lys314fsX16
Original code 1170 283
Description A frame shift deletion mutation in the exon 11 leading to a
Description premature stop codon in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1116
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62826
Feature /change: -a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1074
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 314
Feature /change: K -> NIQCLCLLNP QGTLKGX
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_Y315X(1); standard; MUTATION; SH2
Accession A0077
Original code 11.8
Description Nonsense mutation in the exon 11 leading to
Description stop codon in SH2 domain
Date 09-Jan-1996 (Rel. 3, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7554467
RefAuthors Conley, M. E., Rohrer, J.
RefTitle The spectrum of mutations in Btk that cause X-linked
RefTitle agammaglobulinemia
RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995)
DB CrossRef BTKbase; A0256
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62829
Feature /change: t -> g
Feature /genomic_region: exon; 11
Feature /RE: +AspI, +PflFI, +PsyI, +Tth111I,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1077
Feature /codon: tat -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 315
Feature /change: Y -> X
Feature /domain: SH2
Diagnosis Classical XLA
Protein struct Premature stop
Sex XY
//
ID BTK_#Y315X321(1); standard; MUTATION; SH2
Accession A0078
Original code CT
Description Frameshift deletion in the exon 11 leading to
Description stop codon in SH2 domain
Date 26-Oct-1998 (Rel. 6, Created)
Date 26-Oct-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-Oct-1998) to BTKbase.
RefLoc Prof. Hans D. Ochs; Department of Pediatrics, Box
RefLoc 356320, University of Washington, School of Medicine
RefLoc Seattle, WA 98195-6320; fax 206 543 3184;
RefLoc e-mail allgau@u.washington.edu
DB CrossRef BTKbase; A0532
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62827
Feature /change: -ta
Feature /genomic_region: exon;11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1075..1076
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 315
Feature /change: Y -> YSVCVCX
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_#T316X321(1a); standard; MUTATION; SH2
Accession A0079
Original code P10-1
Description Frameshift deletion in the exon 11 leading to
Description stop codon in SH2 domain
Date 26-Sep-1995 (Rel. 3, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8834236
RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R.,
RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle Mutations of the Btk gene in 12 unrelated families
RefTitle with X-linked agammaglobulinemia in Japan
RefLoc Hum. Genet. 97:424-430(1996)
DB CrossRef BTKbase; A0211
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62831..62832
Feature /change: -ca
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1079..1080
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 316
Feature /change: T -> SVCVCX
Feature /domain: SH2
Protein struct Premature stop
Diagnosis Classical XLA
Sex XY
Age 4
Relative BTKbase; A0212 brother
IgA 0.13
IgG 0.95
IgM 0.09
B cells surf Ig 1
//
ID BTK_#T316X321(1b); standard; MUTATION; SH2
Accession A0080
Original code P10-2
Description Frameshift deletion in the exon 11 leading to
Description stop codon in SH2 domain
Date 26-Sep-1995 (Rel. 3, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8834236
RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R.,
RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle Mutations of the Btk gene in 12 unrelated families
RefTitle with X-linked agammaglobulinemia in Japan
RefLoc Hum. Genet. 97:424-430(1996)
DB CrossRef BTKbase; A0212
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62831..62832
Feature /change: -ca
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1079..1080
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 316
Feature /change: T -> SVCVCX
Feature /domain: SH2
Protein struct Premature stop
Diagnosis Classical XLA
Sex XY
Age 3
Relative BTKbase; A0211 brother
IgA <0.20
IgG 2.40
IgM <0.2
B cells surf Ig 10
//
ID BTK_S318F(1); standard; MUTATION; SH2
Accession A0081
Original code R.C.
Description Missense mutation in the exon 10 leading to
Description amino acid change in SH2 domain
Date 16-Aug-1999 (Rel. 7, Created)
Date 16-Aug-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Jul-1999) to the BTKbase.
RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc e-mail maryellen.conley@stjude.org
DB CrossRef BTKbase; A0574
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62837
Feature /change: c -> t
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1085
Feature /codon: tct -> ttt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 318
Feature /change: S -> F
Feature /domain: SH2
Family history De novo
//
ID BTK_S318F(2); standard; MUTATION; SH2
Accession A0082
Systematic name g.62837C>T, c.953C>T, r.953c>u, p.Ser318Phe
Original code 1185 154
Description A point mutation in the exon 11 leading to an amino acid
Description change in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1117
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62837
Feature /change: c -> t
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1085
Feature /codon: tct -> ttt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 318
Feature /change: S -> F
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_S318P(1); standard; MUTATION; SH2
Accession A0083
Systematic name g.62836T>C, c.1084T>C, p.S318P
Original code P15
Description Point mutation in the exon 11 leading to an amino acid
Description change in the SH2 domain
Date 17-Jul-2003 (Rel. 7, Created)
Date 17-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12655572
RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M.,
RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M.,
RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M.,
RefAuthors Zelazko, M.
RefTitle Bruton tyrosine kinase gene mutations in argentina.
RefLoc Hum Mutat 21:451 (2003)
DB CrossRef BTKbase; A0882
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62836
Feature /change: t -> c
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1084
Feature /codon: tct -> cct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 318
Feature /change: S -> P
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Argentina
Family history Inherited
//
ID BTK_V319A(1); standard; MUTATION; SH2
Accession A0084
Original code G13717
Description Missense mutation in the exon 11 leading to
Description amino acid change in SH2 domain
Date 07-Sep-1997 (Rel. 5, Created)
Date 20-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Sep-1997) to the BTKbase.
RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH;
RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc e-mail T.Lester@ich.ucl.ac.uk
DB CrossRef BTKbase; A0430
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62840
Feature /change: t -> c
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1088
Feature /codon: gtg -> gcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 319
Feature /change: V -> A
Feature /domain: SH2
Diagnosis Moderate XLA
Sex XY
Ethnic origin Caucasoid; England
Family history Inherited
CD19 0
Symptoms Infections first started with hindsight at
Symptoms 6yrs, but most from 22yrs onwards
Comment -!-Family history: sporadic case, not known if mother
Comment -!-Family history: carries mutation
//
ID BTK_#V319X321(1a); standard; MUTATION; SH2
Accession A0085
Original code P2
Description Frameshift deletion in the exon 11 leading to
Description stop codon in SH2 domain
Date 27-Sep-2000 (Rel. 7, Created)
Date 27-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10887125
RefAuthors Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S.,
RefAuthors Agematsu, K., Murakami, G., Sakazume, S., Sako, M.,
RefAuthors Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi,
RefAuthors K., Kishimoto, T., Miyawaki, T.
RefTitle Genetic defect in human X-linked agammaglobulinemia
RefTitle impedes a maturational evolution of pro-B cells into a
RefTitle later stage of pre-B cells in the B-cell differentiation
RefTitle pathway
RefLoc Blood 96:610-617(2000)
DB CrossRef BTKbase; A0718
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62841..62842
Feature /change: -gt
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1089..1090
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 319..320
Feature /change: VF -> VCX
Feature /domain: SH2
Diagnosis Classical XLA
Age 0.42
Ethnic origin Mongoloid; Japan
Relative BTKbase; A0719 brother
//
ID BTK_#V319X321(1b); standard; MUTATION; SH2
Accession A0086
Original code P7
Description Frameshift deletion in the exon 11 leading to
Description stop codon in SH2 domain
Date 27-Sep-2000 (Rel. 7, Created)
Date 27-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10887125
RefAuthors Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S.,
RefAuthors Agematsu, K., Murakami, G., Sakazume, S., Sako, M.,
RefAuthors Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi,
RefAuthors K., Kishimoto, T., Miyawaki, T.
RefTitle Genetic defect in human X-linked agammaglobulinemia
RefTitle impedes a maturational evolution of pro-B cells into a
RefTitle later stage of pre-B cells in the B-cell differentiation
RefTitle pathway
RefLoc Blood 96:610-617(2000)
DB CrossRef BTKbase; A0719
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62841..62842
Feature /change: -gt
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1089..1090
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 319..320
Feature /change: VF -> VCX
Feature /domain: SH2
Diagnosis Classical XLA
Age 3
Ethnic origin Mongoloid; Japan
Relative BTKbase; A0718 brother
//
ID BTK_#G325X355(1); standard; MUTATION; SH2
Accession A0087
Systematic name g.63038_63165del, c.975_1102del, r.975_1102del,
Systematic name p.Asp326fsX29
Original code P58
Description A frame shift deletion mutation in the exon 12 leading to a
Description premature stop codon in the SH2 domain
Date 29-Jun-2004 (Rel. 7, Created)
Date 29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11742281
RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K.,
RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S.,
RefAuthors Miyawaki, T.
RefTitle Clinical and mutational characteristics of X-linked
RefTitle agammaglobulinemia and its carrier identified by flow
RefTitle cytometric assessment combined with genetic analysis.
RefLoc J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef BTKbase; A1036
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 63038..63165
Feature /change: -ggaccctcaa ggggtgatac gtcattatgt tgtgtgttcc
Feature /change: acacctcaga gccagtatta cctggctgag aagcaccttt
Feature /change: tcagcaccat ccctgagctc attaactacc atcagcacaa
Feature /change: ctctgcag
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1107..1234
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 325..368
Feature /change: GDPQGVIRHY VVCSTPQSQY YLAEKHLFST IPELINYHQH NSAG
Feature /change: ->
Feature /change: GTHIQAQISS VSTKQECTFH CRPGIRIMGN X
Feature /domain: SH2
Diagnosis Classical XLA
Age 2
Sex XY
Ethnic origin Mongoloid; Japan
Family history De novo
IgA 0.24
IgG 0.24
IgM 0.26
//
ID BTK_#D326X330(1); standard; MUTATION; SH2
Accession A0088
Original code P25
Description Frameshift deletion in the exon 12 leading to
Description stop codon in SH2 domain
Date 19-Aug-1996 (Rel. 4, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8695804
RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T.,
RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N.,
RefAuthors Kishimoto, T.
RefTitle Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle mutations and characterization of the derived proteins in
RefTitle 35 X-linked agammaglobulinemia families: a nationwide
RefTitle study of Btk deficiency in Japan
RefLoc Blood 88:561-573(1996)
DB CrossRef BTKbase; A0307
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 63039
Feature /change: -g
Feature /genomic_region: exon; 12
Feature /RE: +Hpy178III,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1108
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 326
Feature /change: D -> TLKGX
Feature /domain: SH2
Kinase activity Inactive
Sex XY
Age 0.25
Ethnic origin Mongoloid; Japan
Family history De novo
IgA <0.05
IgM 0.30
B cells surf Ig 0.1
//
ID BTK_#D326X398(1); standard; MUTATION; SH2
Accession A0089
Original code 1210
Description 13 bp deletion in the exon 12 leading to
Description frameshift and stop codon in TK domain
Date 28-Apr-1998 (Rel. 6, Created)
Date 05-Nov-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors Y., Rohrer, J.
RefTitle Mutations in Btk patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0493
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 63040..63052
Feature /change: -accctcaagg ggt
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1109..1121
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 326..330
Feature /change: DPQGV -> GYVIMLCVPH LRASITWLRS TFSAPSLSSL
Feature /change: TTISTTLQDS YPGSNIQCLN KTRMHLPLQA
Feature /change: WDTDHGKLIQ RTX
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Family history Inherited
//
ID BTK_Q328X(1); standard; MUTATION; SH2
Accession A0090
Original code 49
Description Nonsense mutation in the exon 12 leading to
Description stop codon in SH2 domain
Date 02-Feb-1996 (Rel. 4, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9143921
RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S.,
RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R.,
RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in
RefTitle 26 unrelated patients with X-linked agammaglobulinemia
RefLoc Hum. Mut. 9:418-425 (1997)
DB CrossRef ESID; IT 0232 M71 G1
DB CrossRef BTKbase; A0235
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63045
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature /RE: +AflII, +BfrI, +BspTI, +Bst98I, +MseI, +MspCI,
Feature /RE: +Tru1I, +Tru9I, +Vha464I,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1114
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 328
Feature /change: Q -> X
Feature /domain: SH2
mRNA level nd
Protein struct Premature stop
Sex XY
//
ID BTK_Q328X(2); standard; MUTATION; SH2
Accession A0091
Original code WKZ-8
Description Nonsense mutation in the exon 12 leading to
Description stop codon in SH2 domain
Date 22-Apr-1996 (Rel. 3, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (22-Apr-1996) to the BTKbase.
RefLoc Dr. Rik A. Brooimans; Wilhelmina Kinderziekenhuis,
RefLoc Postbus 18009,3501 CA Utrecht, The Netherlands;
RefLoc e-mail R.Brooimans@wkz.ruu.nl
RefNumber [2]
RefCrossRef PUBMED; 9192269
RefAuthors Brooimans, R.A., van den Berg, J.A.M., Rijkers, G.T.,
RefAuthors Sanders, L.A.M., van Amstel, J.K.P., Tilanus, M.G.J.,
RefAuthors Grubben, M.J.A.L., Zegers, B.J.M.
RefTitle Identification of novel Bruton's tyrosine kinase mutations
RefTitle in 10 unrelated subjects with X linked agammaglobulinemia
RefLoc J. Med. Genet. 34: 484-488(1997)
DB CrossRef BTKbase; A0275
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63045
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature /RE: +AflII, +BfrI, +BspTI, +Bst98I, +MseI, +MspCI,
Feature /RE: +Tru1I, +Tru9I, +Vha464I,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1114
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 328
Feature /change: Q -> X
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Age 3
IgG 1.2
B cells <1
//
ID BTK_Q328X(3); standard; MUTATION; SH2
Accession A0092
Systematic name g.63045C>T, c.982C>T, r.982c>u, p.Gln328X
Original code Patient 23
Description A point mutation in the exon 12 leading to a premature stop
Description codon in the SH2 domain
Date 23-Jun-2004 (Rel. 7, Created)
Date 23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0962
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63045
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1114
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 328
Feature /change: Q -> X
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Not known
//
ID BTK_Y334S(1); standard; MUTATION; SH2
Accession A0093
Original code 12
Description Missense mutation in the exon 12 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7880320
RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle Genomic organization of the Btk gene and exon scanning for
RefTitle mutations in the patients with X-linked
RefTitle agammaglobulinemia
RefLoc Hum. Molec. Genet. 3:1743-1749(1994)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef OMIM; 300300.0027
DB CrossRef SWISSCHANGE; BTK_HUMAN_25
DB CrossRef SWISS-PROT; Q06187:334_334
DB CrossRef BTKbase; A0070
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63064
Feature /change: a -> c
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1133
Feature /codon: tat -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 334
Feature /change: Y -> S
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [2]
Diagnosis Classical XLA
Sex XY
Family history Inherited
IgA hd
IgE hd
IgG <10%
IgM hd
B cells surf Ig nd
//
ID BTK_Y334S(2); standard; MUTATION; SH2
Accession A0094
Systematic name g.63064A>C, c.1001A>C, r.1001a>c, p.Tyr334Ser
Original code 1220 295
Description A point mutation in the exon 12 leading to an amino acid
Description change in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1121
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63064
Feature /change: a -> c
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1133
Feature /codon: tat -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 334
Feature /change: Y -> S
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_C337G(1); standard; MUTATION; SH2
Accession A0095
Original code P5
Description Missense mutation in the exon 12 leading to
Description amino acid change in SH2 domain
Date 20-Sep-2000 (Rel. 7, Created)
Date 20-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11555397
RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F.,
RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E.,
RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras,
RefAuthors P., Ritis, K.
RefTitle Analysis of btk mutations in patients with X-linked
RefTitle agammaglobulinaemia (XLA) and determination of carrier
RefTitle status in normal female relatives: a nationwide study of
RefTitle btk deficiency in greece.
RefLoc Scand J Immunol 54:321-327 (2001)
DB CrossRef BTKbase; A0682
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63072
Feature /change: t -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1141
Feature /codon: tgt -> ggt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 337
Feature /change: C -> G
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin - ; Greece
//
ID BTK_C337X(1); standard; MUTATION; SH2
Accession A0096
Original code 134
Description Nonsense mutation in the exon 12 leading to
Description stop codon in SH2 domain
Date 25-Sep-1995 (Rel. 2, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7880320
RefAuthors Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle Genomic organization of the Btk gene and exon scanning for
RefTitle mutations in the patients with X-linked
RefTitle agammaglobulinemia
RefLoc Hum. Molec. Genet. 3:1743-1749(1994)
DB CrossRef BTKbase; A0194
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63074
Feature /change: t -> a
Feature /genomic_region: exon; 12
Feature /RE: +BscFI, +Bsp143I, +DpnI, +DpnII, +Kzo9I, +MboI,
Feature /RE: +NdeII, +Sau3AI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1143
Feature /codon: tgt -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 337
Feature /change: C -> X
Feature /domain: SH2
Protein struct Premature stop
Diagnosis Classical XLA
Sex XY
Family history Inherited
IgA nd
IgE nd
IgG nd
IgM nd
B cells surf Ig nd
//
ID BTK_@P340X349(1); standard; MUTATION; SH2
Accession A0097
Systematic name g.63077_63080dup, c.1014_1017dup, r.1014_1017dup,
Systematic name p.Pro340fsX9
Original code 23 ref. [2]
Description A frame shift duplication mutation in the exon 12 leading
Description to a premature stop codon in the SH2 domain
Date 15-May-1997 (Rel. 4, Created)
Date 01-Aug-2003 (Rel. 7, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (27-Aug-1996) to the BTKbase.
RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches
RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany;
RefLoc FAX 498 951 604 928;
RefNumber [2]
RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336
RefLoc Munchen, Germany;
RefNumber [2]
RefCrossRef PUBMED; 9445504
RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R.,
RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle Mutation screening of the btk gene in 56 families with
RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle without correlation to clinical course
RefLoc Pediatrics 101:276-284(1998)
DB CrossRef BTKbase; A0376
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: U78027: 63081
Feature /change: +caca
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1150
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 340
Feature /change: P -> HTSEPVLPGX
Feature /domain: SH2
Protein struct Truncated protein; ref [2]
Sex XY
//
ID BTK_Q343X(1); standard; MUTATION; SH2
Accession A0098
Systematic name g.63090C>T, c.1159C>T, p.Q343X
Original code P7
Description Nonsense mutation in the exon 12 leading to stop codon in
Description the SH2 domain
Date 03-Oct-2001 (Rel. 7, Created)
Date 03-Oct-2001 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (03-Oct-2001) to BTKbase.
RefLoc Hirokazu Kanegane, M.D.; Department of Pediatrics, Toyama
RefLoc Medical and Pharmaceutical University;
RefLoc Fax +81-76-434-5029; e-mail kanegane@ms.toyama-mpu.ac.jp
RefNumber [2]
RefCrossRef Human Mutation, Mutation in Brief #446 (2001) Online
RefAuthors Wang, Y., Kanegane, H., Sanal, O., Ersoy, F., Tezcan, I.,
RefAuthors Futatani, T., Tsukada, S., Miyawaki, T.
RefTitle Bruton tyrosine kinase gene mutations in Turkish patients
RefTitle with presumed X-linked agammaglobulinemia
RefLoc Hum. Mut. 18:356 (2001)
DB CrossRef BTKbase; A0764
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63090
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1159
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 343
Feature /change: Q -> X
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Age 1
Ethnic origin Turkey
Family history De novo
IgA nd
IgG 2.82
IgM nd
CD19 1
Comment -!-Symptoms:Recurrent upper and lower respiratory tract
Comment -!-Symptoms:infection
//
ID BTK_L346P(1); standard; MUTATION; SH2
Accession A0099
Systematic name g.63100T>C, c.1037T>C, r.1037u>c, p.Leu346Pro
Original code 1245 228
Description A point mutation in the exon 12 leading to an amino acid
Description change in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1122
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63100
Feature /change: t -> c
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1169
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 346
Feature /change: L -> P
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_L346R(1); standard; MUTATION; SH2
Accession A0100
Original code P6
Description Missense mutation in the exon 12 leading to
Description amino acid change in SH2 domain
Date 20-Sep-2000 (Rel. 7, Created)
Date 20-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11555397
RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F.,
RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E.,
RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras,
RefAuthors P., Ritis, K.
RefTitle Analysis of btk mutations in patients with X-linked
RefTitle agammaglobulinaemia (XLA) and determination of carrier
RefTitle status in normal female relatives: a nationwide study of
RefTitle btk deficiency in greece.
RefLoc Scand J Immunol 54:321-327 (2001)
DB CrossRef BTKbase; A0683
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63100
Feature /change: t -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1169
Feature /codon: ctg -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: substitution
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 346
Feature /change: L -> R
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin - ; Greece
Family history Inherited
//
ID BTK_A347P(1); standard; MUTATION; SH2
Accession A0101
Systematic name g.63102G>C, c.1039G>C, r.1039g>c, p.Ala347Pro
Original code P5
Description A point mutation in the exon 12 leading to an amino acid
Description change in the SH2 domain
Date 24-May-2006 (Rel. 8, Created)
Date 24-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16712653
RefAuthors Chan, K. W., Chen, T., Jiang, L., Fok, S. F., Lee, T. L.,
RefAuthors Lee, B. W., Yang, X., Lau, Y. L.
RefTitle Identification of bruton tyrosine kinase mutations in 12
RefTitle chinese patients with X-linked agammaglobulinaemia by long
RefTitle PCR-direct sequencing.
RefLoc Int J Immunogenet 33:205-209 (2006)
DB CrossRef BTKbase; A1189
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63102
Feature /change: g -> c
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1171
Feature /codon: gct -> cct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 347
Feature /change: A -> P
Feature /domain: SH2
Diagnosis Classical XLA
Age 5.1
Sex XY
Ethnic origin Mongoloid
Family history Inherited
IgA 0.36
IgG 4.44
IgM 0.73
B cells 1.0
//
ID BTK_E348X(1); standard; MUTATION; SH2
Accession A0102
Description Point in the exon 12
Description leading to stop codon in domain SH2
Date 28-Apr-1998 (Rel. 6, Created)
Date 28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors Y., Rohrer, J.
RefTitle Mutations in Btk patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0494
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63105
Feature /change: g -> t
Feature /genomic_region: exon;12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1174
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 348
Feature /change: E -> X
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Family history Inherited
//
ID BTK_@K349X357(1); standard; MUTATION; SH2
Accession A0103
Systematic name g.63107dupG, c.1044dupG, r.1044dupg, p.Lys349fsX8
Original code P11
Description A frame shift duplication mutation in the exon 12 leading
Description to a premature stop codon in the SH2 domain
Date 02-Oct-2000 (Rel. 7, Created)
Date 04-Aug-2003 (Rel. 7, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10887125
RefAuthors Nomura, K., Kanegane, H., Karasuyama, H., Tsukada, S.,
RefAuthors Agematsu, K., Murakami, G., Sakazume, S., Sako, M.,
RefAuthors Tanaka, R., Kuniya, Y., Komeno, T., Ishihara, S., Hayashi,
RefAuthors K., Kishimoto, T., Miyawaki, T.
RefTitle Genetic defect in human X-linked agammaglobulinemia
RefTitle impedes a maturational evolution of pro-B cells into a
RefTitle later stage of pre-B cells in the B-cell differentiation
RefTitle pathway
RefLoc Blood 96:610-617(2000)
DB CrossRef BTKbase; A0726
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: U78027: 63108
Feature /change: +g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1177
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 349
Feature /change: K -> EAPFQHHPX
Feature /domain: SH2
Diagnosis Classical XLA
Age 5
Ethnic origin Mongoloid; Japan
//
ID BTK_L358F(1a); standard; MUTATION; SH2
Accession A0104
Description Missense mutation in the exon 12 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 7897635
RefAuthors Ohashi, Y., Tsuchiya, S., Konno, T.
RefTitle A new point mutation involving a highly conserved leucine
RefTitle in the Btk SH2 domain in a family with X linked
RefTitle agammaglobulinaemia
RefLoc J. Med. Genet. 32:77-79(1995)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
RefNumber [3]
RefCrossRef PUBMED; 9427714
RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors Yoshizaki, K., Kishimoto, T.
RefTitle Deficient expression of Bruton's tyrosine kinase in
RefTitle monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle a flow cytometric analysis and its clinical application to
RefTitle carrier detection
RefLoc Blood 91:595-602(1998)
DB CrossRef SWISSCHANGE; BTK_HUMAN_26
DB CrossRef SWISS-PROT; Q06187:358_358
DB CrossRef BTKbase; A0161
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63135
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1204
Feature /codon: ctc -> ttc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 358
Feature /change: L -> F
Feature /domain: SH2
Protein level Reduced; ref [3]
Kinase activity Reduced; ref [2]
Protein struct Steric clash in hydrophobic core; ref [2]
Diagnosis Classical XLA
Sex XY
Age 22
Relative BTKbase; A0162 brother
//
ID BTK_L358F(1b); standard; MUTATION; SH2
Accession A0105
Description Missense mutation in the exon 12 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7897635
RefAuthors Ohashi, Y., Tsuchiya, S., Konno, T.
RefTitle A new point mutation involving a highly conserved leucine
RefTitle in the Btk SH2 domain in a family with X linked
RefTitle agammaglobulinaemia
RefLoc J. Med. Genet. 32:77-79(1995)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_26
DB CrossRef SWISS-PROT; Q06187:358_358
DB CrossRef BTKbase; A0162
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63135
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1204
Feature /codon: ctc -> ttc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 358
Feature /change: L -> F
Feature /domain: SH2
Protein struct Steric clash in hydrophobic core; ref [2]
Diagnosis Classical XLA
Sex XY
Age 12
Relative BTKbase; A0161 brother
//
ID BTK_L358F(2); standard; MUTATION; SH2
Accession A0106
Systematic name g.63135C>T, c.1072C>T, r.1072c>u, p.Leu358Phe
Original code Patient 24
Description A point mutation in the exon 12 leading to an amino acid
Description change in the SH2 domain
Date 23-Jun-2004 (Rel. 7, Created)
Date 23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0963
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63135
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1204
Feature /codon: ctc -> ttc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 358
Feature /change: L -> F
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
//
ID BTK_#N360X402(1); standard; MUTATION; SH2
Accession A0107
Original code P7
Description Deletion in the exon 12 leading to
Description frameshift and stop codon in TK domain
Date 20-Sep-2000 (Rel. 7, Created)
Date 20-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11555397
RefAuthors Speletas, M., Kanariou, M., Kanakoudi-Tsakalidou, F.,
RefAuthors Papadopoulou-Alataki, E., Arvanitidis, K., Pardali, E.,
RefAuthors Constantopoulos, A., Kartalis, G., Vihinen, M., Sideras,
RefAuthors P., Ritis, K.
RefTitle Analysis of btk mutations in patients with X-linked
RefTitle agammaglobulinaemia (XLA) and determination of carrier
RefTitle status in normal female relatives: a nationwide study of
RefTitle btk deficiency in greece.
RefLoc Scand J Immunol 54:321-327 (2001)
DB CrossRef BTKbase; A0684
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 63142
Feature /change: -a
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1211
Feature aa; 3
Feature /rnalink: 2
Feature /name: out-of-frame extension
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 360
Feature /change: N -> TTISTTLQDS YPGSNIQCLN KTRMHLPLQA
Feature /change: WDTDHGKLIQ RTX
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin - ; Greece
Family history Inherited
//
ID BTK_Y361C(1a); standard; MUTATION; SH2
Accession A0108
Description Missense mutation in the exon 12 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8164701
RefAuthors Saffran, D. C., Parolini, O., Fitch-Hilgenberg, M. E.,
RefAuthors Rawlings, D. J., Afar, D.E.H., Witte, O. N., Conley, M. E.
RefTitle A point mutation in the SH2 domain of Bruton's tyrosine
RefTitle kinase in atypical X-linked agammaglobulinemia
RefLoc New Engl. Med. 330:1488-1491(1994)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef OMIM; 300300.0003
DB CrossRef SWISSCHANGE; BTK_HUMAN_27
DB CrossRef SWISS-PROT; Q06187:361_361
DB CrossRef BTKbase; A0040
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63145
Feature /change: a -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1214
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 361
Feature /change: Y -> C
Feature /domain: SH2
Protein struct Domain-domain interaction or disturbs phosphotyrosyl
Protein struct peptide binding; ref [2]
Sex XY
Relative BTKbase; A0041 brother
Relative BTKbase; A0042 brother
IgA <0.05
IgG 5.90
IgM 0.18
B cells surf Ig 0.3-2
//
ID BTK_Y361C(1b); standard; MUTATION; SH2
Accession A0109
Description Missense mutation in the exon 12 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8164701
RefAuthors Saffran, D. C., Parolini, O., Fitch-Hilgenberg, M. E.,
RefAuthors Rawlings, D. J., Afar, D.E.H., Witte, O. N., Conley, M. E.
RefTitle A point mutation in the SH2 domain of Bruton's tyrosine
RefTitle kinase in atypical X-linked agammaglobulinemia
RefLoc New Engl. Med. 330:1488-1491(1994)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef OMIM; 300300.0003
DB CrossRef SWISSCHANGE; BTK_HUMAN_27
DB CrossRef SWISS-PROT; Q06187:361_361
DB CrossRef BTKbase; A0041
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63145
Feature /change: a -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1214
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 361
Feature /change: Y -> C
Feature /domain: SH2
Protein struct Domain-domain interaction or disturbs phosphotyrosyl
Protein struct peptide binding; ref [2]
Sex XY
Relative BTKbase; A0040 brother
Relative BTKbase; A0042 brother
IgA <0.5
IgG 1.40
IgM <0.05
B cells surf Ig 0.3-2
//
ID BTK_Y361C(1c); standard; MUTATION; SH2
Accession A0110
Description Missense mutation in the exon 12 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8164701
RefAuthors Saffran, D. C., Parolini, O., Fitch-Hilgenberg, M. E.,
RefAuthors Rawlings, D. J., Afar, D.E.H., Witte, O. N., Conley, M. E.
RefTitle A point mutation in the SH2 domain of Bruton's tyrosine
RefTitle kinase in atypical X-linked agammaglobulinemia
RefLoc New Engl. Med. 330:1488-1491(1994)
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef OMIM; 300300.0003
DB CrossRef SWISSCHANGE; BTK_HUMAN_27
DB CrossRef SWISS-PROT; Q06187:361_361
DB CrossRef BTKbase; A0042
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63145
Feature /change: a -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1214
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 361
Feature /change: Y -> C
Feature /domain: SH2
Protein struct Domain-domain interaction or disturbs phosphotyrosyl
Protein struct peptide binding; ref [2]
Sex XY
Relative BTKbase; A0040 brother
Relative BTKbase; A0041 brother
IgA <0.05
IgG 4.70
IgM <0.05
B cells surf Ig 0.3-2
//
ID BTK_Y361D(1); standard; MUTATION; SH2
Accession A0111
Systematic name g.63144T>G, c.1081T>G, r.1081u>g, p.Tyr361Asp
Original code 1290 224
Description A point mutation in the exon 12 leading to an amino acid
Description change in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1123
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63144
Feature /change: t -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1213
Feature /codon: tac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 361
Feature /change: Y -> D
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_Y361X(1); standard; MUTATION; SH2
Accession A0112
Original code PAV
Description Nonsense mutation in the exon 12 leading to
Description stop codon in SH2 domain
Date 31-May-2000 (Rel. 7, Created)
Date 31-May-2000 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (31-May-2000) to BTKbase.
RefLoc Dr. M. C. Garcia Rodriguez, E. Lopez Granados, G. Fontan
RefLoc Casariego; Unidad de Inmunologia, Hospital La Paz.
RefLoc Castellana 261, Madrid 28046, Spain; Fax 91 7277095;
RefLoc e-mail mcruzgarcia@hulp.insalud.es
RefNumber [2]
RefCrossRef PUBMED; 11438999
RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira
RefAuthors Cerdan, A., Fontan Casariego, G.
RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in
RefTitle Spain
RefLoc Hum. Mut. 18:84 (2001)
DB CrossRef BTKbase; A0640
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63146
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1215
Feature /codon: tac -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: SWISS-PROT: Q06187; BTK_HUMAN: 361
Feature /change: Y -> X
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Age 2
Ethnic origin Caucasian; Spain
Family history Inherited
IgA 0
IgE 25 IU
IgG 0.25
IgM 0.10
B cells surf Ig 0
CD19 0
CD20 1
Symptoms Sepsis, pneumonias, diarrhea, otitis
//
ID BTK_Y361X(2); standard; MUTATION; SH2
Accession A0113
Systematic name g.63146C>A, c.1083C>A, r.1083c>a, p.Tyr361X
Original code 1305 273
Description A point mutation in the exon 12 leading to a premature stop
Description codon in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1124
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63146
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1215
Feature /codon: tac -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 361
Feature /change: Y -> X
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_#Y361-1(1); standard; MUTATION; SH2
Accession A0114
Systematic name g.63144_63146delTAC, c.1081_1083delTAC, r.1081_1083deluac,
Systematic name p.Tyr361del
Original code P59
Description An inframe deletion in the exon 12 leading to an amino acid
Description change in the SH2 domain
Date 29-Jun-2004 (Rel. 7, Created)
Date 29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11742281
RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K.,
RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S.,
RefAuthors Miyawaki, T.
RefTitle Clinical and mutational characteristics of X-linked
RefTitle agammaglobulinemia and its carrier identified by flow
RefTitle cytometric assessment combined with genetic analysis.
RefLoc J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef BTKbase; A1037
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 63144..63146
Feature /change: -tac
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1213..1215
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 361
Feature /change: -Y
Feature /domain: SH2
Diagnosis Classical XLA
Age 5 mo
Sex XY
Ethnic origin Mongoloid; Japan
Family history De novo
IgA <0.24
IgG 0.71
IgM 0.17
//
ID BTK_H362Q(1); standard; MUTATION; SH2
Accession A0115
Original code WKZ-4
Description Missense mutation in the exon 12 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (15-May-1995) to the BTKbase.
RefLoc Dr. Rik A. Brooimans; Wilhelmina Kinderziekenhuis,
RefLoc Postbus 18009,3501 CA Utrecht, The Netherlands;
RefLoc e-mail R.Brooimans@wkz.ruu.nl
RefNumber [2]
RefCrossRef PUBMED; 9192269
RefAuthors Brooimans, R.A., van den Berg, J.A.M., Rijkers, G.T.,
RefAuthors Sanders, L.A.M., van Amstel, J.K.P., Tilanus, M.G.J.,
RefAuthors Grubben, M.J.A.L., Zegers, B.J.M.
RefTitle Identification of novel Bruton's tyrosine kinase mutations
RefTitle in 10 unrelated subjects with X linked agammaglobulinemia
RefLoc J. Med. Genet. 34: 484-488(1997)
RefNumber [3]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_28
DB CrossRef SWISS-PROT; Q06187:362_362
DB CrossRef BTKbase; A0172
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63149
Feature /change: t -> g
Feature /genomic_region: exon; 12
Feature /RE: +BbvI, +Bst71I, +Fnu4HI, +Fsp4HI, +ItaI, +TseI,
Feature /RE:
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1218
Feature /codon: cat -> cag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 362
Feature /change: H -> Q
Feature /domain: SH2
Protein struct Disturbs phosphotyrosyl peptide binding; ref [3]
Diagnosis Classical XLA
Sex XY
Age 4
B cells surf Ig <1
//
ID BTK_H362R(1); standard; MUTATION; SH2
Accession A0116
Original code BM
Description Missense mutation in the exon 12 leading to
Description amino acid change in SH2 domain
Date 02-Jun-1999 (Rel. 7, Created)
Date 02-Jun-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (15-May-1999) to the BTKbase.
RefLoc Dr. C.I.E. Smith; Center for BioTechnology, Department of
RefLoc Biosciences at Novum, Karolinska Institute, S-14157
RefLoc Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se
RefNumber [2]
RefCrossRef PUBMED; 10754312
RefAuthors Mattsson, P. T., Lappalainen, I., Backesjo, C. M.,
RefAuthors Brockmann, E., Lauren, S., Vihinen, M., Smith, C. I.
RefTitle Six X-linked agammaglobulinemia-causing missense mutations
RefTitle in the Src homology 2 domain of Bruton's tyrosine kinase:
RefTitle phosphotyrosine-binding and circular dichroism analysis
RefLoc J. Immunol. 164:4170-4177(2000)
DB CrossRef BTKbase; A0542
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63148
Feature /change: a -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1217
Feature /codon: cat -> cgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 362
Feature /change: H -> R
Feature /domain: SH2
Sex XY
//
ID BTK_@Q363X398(1); standard; MUTATION; SH2
Accession A0117
Systematic name g.63151dupA, c.1088dupA, r.1088dupa, p.His364fsX34
Original code Patient 25
Description A frame shift duplication mutation in the exon 12 leading
Description to a premature stop codon in the SH2 domain
Date 23-Jun-2004 (Rel. 7, Created)
Date 23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0964
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: U78027: 63152
Feature /change: +a
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1221
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 363
Feature /change: Q -> QAQLCRTHIQ AQISSVSTKQ ECTFHCRPGI RIMGNX
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
//
ID BTK_H364D(1); standard; MUTATION; SH2
Accession A0118
Systematic name g.63153C>G, c.1090C>G, r.1090c>g, p.His364Asp
Original code 1315 222
Description A point mutation in the exon 12 leading to an amino acid
Description change in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1125
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63153
Feature /change: c -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1222
Feature /codon: cac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 364
Feature /change: H -> D
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_H364P(1); standard; MUTATION; SH2
Accession A0119
Original code MK
Description Missense mutation in the exon 12 leading to
Description amino acid change in SH2 domain
Date 25-Sep-1995 (Rel. 2, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (24-May-1995) to the BTKbase.
RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of
RefLoc Washington, Seattle, WA 98195, USA;
RefLoc e-mail allgau@u.washington.edu
RefNumber [2]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_29
DB CrossRef SWISS-PROT; Q06187:364_364
DB CrossRef BTKbase; A0197
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63154
Feature /change: a -> c
Feature /genomic_region: exon; 12
Feature /RE: +CviJI, +CviJI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1223
Feature /codon: cac -> ccc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 364
Feature /change: H -> P
Feature /domain: SH2
Protein struct ;ref [2]
Sex XY
//
ID BTK_H364P(2a); standard; MUTATION; SH2
Accession A0120
Systematic name g.63154A>C, c.1223A>C, p.H364P
Original code P8-1
Description Point mutation in the exon 12 leading to an amino acid
Description change in the SH2 domain
Date 09-Sep-2002 (Rel. 7, Created)
Date 09-Sep-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12204007
RefCrossRef Human Mutation, Mutation in Brief #531 (2002) Online
RefAuthors Tani, S. M., Wang, Y., Kanegane, H., Futatani, T., Pinto,
RefAuthors J., Vilela, M. M., Miyawaki, T.
RefTitle Identification of mutations of bruton's tyrosine kinase
RefTitle gene (BTK) in brazilian patients with X-linked
RefTitle agammaglobulinemia.
RefLoc Hum. Mutat. 20:235-236 (2002)
DB CrossRef BTKbase; A0851
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63154
Feature /change: a -> c
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1223
Feature /codon: cac -> ccc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 364
Feature /change: H -> P
Feature /domain: SH2
Protein level 22.2%
Diagnosis Classical XLA
Sex XY
Age 0.33
Ethnic origin Brazil
Relative BTKbase; A0852 cousin
IgA 0.6
IgG 3.33
IgM 0.40
B cells 0.00
//
ID BTK_H364P(2b); standard; MUTATION; SH2
Accession A0121
Systematic name g.63154A>C, c.1223A>C, p.H364P
Original code P8-2
Description Point mutation in the exon 12 leading to an amino acid
Description change in the SH2 domain
Date 09-Sep-2002 (Rel. 7, Created)
Date 09-Sep-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12204007
RefCrossRef Human Mutation, Mutation in Brief #531 (2002) Online
RefAuthors Tani, S. M., Wang, Y., Kanegane, H., Futatani, T., Pinto,
RefAuthors J., Vilela, M. M., Miyawaki, T.
RefTitle Identification of mutations of bruton's tyrosine kinase
RefTitle gene (BTK) in brazilian patients with X-linked
RefTitle agammaglobulinemia.
RefLoc Hum. Mutat. 20:235-236 (2002)
DB CrossRef BTKbase; A0852
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63154
Feature /change: a -> c
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1223
Feature /codon: cac -> ccc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 364
Feature /change: H -> P
Feature /domain: SH2
Protein level 7.1%
Diagnosis Classical XLA
Sex XY
Age 1
Ethnic origin Brazil
Relative BTKbase; A0851 cousin
IgA UD
IgG 2.50
IgM 0.32
B cells 0.00
//
ID BTK_N365Y(1); standard; MUTATION; SH2
Accession A0122
Original code WKZ-9
Description Missense mutation in the exon 12 leading to
Description amino acid change in SH2 domain
Date 22-Apr-1996 (Rel. 3, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (22-Apr-1996) to the BTKbase.
RefLoc Dr. Rik A. Brooimans; Wilhelmina Kinderziekenhuis,
RefLoc Postbus 18009,3501 CA Utrecht, The Netherlands;
RefLoc e-mail R.Brooimans@wkz.ruu.nl
RefNumber [2]
RefCrossRef PUBMED; 9192269
RefAuthors Brooimans, R.A., van den Berg, J.A.M., Rijkers, G.T.,
RefAuthors Sanders, L.A.M., van Amstel, J.K.P., Tilanus, M.G.J.,
RefAuthors Grubben, M.J.A.L., Zegers, B.J.M.
RefTitle Identification of novel Bruton's tyrosine kinase mutations
RefTitle in 10 unrelated subjects with X linked agammaglobulinemia
RefLoc J. Med. Genet. 34: 484-488(1997)
RefNumber [3]
RefCrossRef PUBMED; 7528500
RefAuthors Vihinen, M., Nilsson, L., Smith, C. I. E.
RefTitle Structural basis of SH2 domain mutations in
RefTitle X-linked agammaglobulinemia
RefLoc Biochem. Biophys. Res. Commun. 205:1270-1277(1994)
DB CrossRef SWISSCHANGE; BTK_HUMAN_30
DB CrossRef SWISS-PROT; Q06187:365_365
DB CrossRef BTKbase; A0276
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63156
Feature /change: a -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1225
Feature /codon: aac -> tac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 365
Feature /change: N -> Y
Feature /domain: SH2
Protein struct ;ref [2]
Diagnosis Classical XLA
Sex XY
IgA nd
IgG nd
IgM nd
B cells <1
//
ID BTK_G368X(1); standard; MUTATION; SH2
Accession A0123
Systematic name g.63165G>T, c.1102G>T, r.1102g>u, p.Gly368X
Original code 1325 293
Description A point mutation in the exon 12 leading to a premature stop
Description codon in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1126
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63165
Feature /change: g -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1234
Feature /codon: gga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 368
Feature /change: G -> X
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_#G368X398(1); standard; MUTATION; SH2
Accession A0124
Systematic name g.63892_63904delGACTCATATCCAG, c.1103_1115delGACTCATATCCAG,
Systematic name r.1103_1115delgacucauauccag, p.Leu369fsX29
Original code P60
Description A frame shift deletion mutation in the exon 13 leading to a
Description premature stop codon in the SH2 domain
Date 29-Jun-2004 (Rel. 7, Created)
Date 29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11742281
RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K.,
RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S.,
RefAuthors Miyawaki, T.
RefTitle Clinical and mutational characteristics of X-linked
RefTitle agammaglobulinemia and its carrier identified by flow
RefTitle cytometric assessment combined with genetic analysis.
RefLoc J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef BTKbase; A1038
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 63892..63904
Feature /change: -gactcatatc cag
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1235..1247
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 368..372
Feature /change: GLISR -> GSNIQCLNKT RMHLPLQAWD TDHGKLIQRT X
Feature /domain: SH2
Diagnosis Classical XLA
Age 4
Sex XY
Ethnic origin Mongoloid; Japan
Family history De novo
IgA 0.05
IgG 0.20
IgM <0.03
//
ID BTK_L369F(1); standard; MUTATION; SH2
Accession A0125
Original code E ref. [1]; 24 ref. [2]
Description Missense mutation in the exon 13 leading to
Description amino acid change in SH2 domain
Date 02-Jan-1997 (Rel. 4, Created)
Date 21-Sep-2000 (Rel. 7, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (01-Jan-1997) to the BTKbase.
RefLoc Dr. C.I.E. Smith; Center for BioTechnology, Department of
RefLoc Biosciences at Novum, Karolinska Institute, S-14157
RefLoc Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se
RefNumber [2]
RefCrossRef PUBMED; 9445504
RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R.,
RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle Mutation screening of the btk gene in 56 families with
RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle without correlation to clinical course
RefLoc Pediatrics 101:276-284(1998)
DB CrossRef BTKbase; A0400
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63894
Feature /change: c -> t
Feature /genomic_region: exon; 13
Feature /RE: +BsaBI, +Bse8I, +Bsh1365I, +BsiBI, +BsrBRI, +MamI,
Feature /RE: +TfiI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1237
Feature /codon: ctc -> ttc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature /change: L -> F
Feature /domain: SH2
Protein struct Invariant, affects domain specifity; ref [2]
Sex XY
//
ID BTK_L369F(2); standard; MUTATION; SH2
Accession A0126
Systematic name g.63894C>T, c.1105C>T, r.1105c>u, p.Leu369Phe
Original code Patient 28
Description A point mutation in the exon 13 leading to an amino acid
Description change in the SH2 domain
Date 24-Jun-2004 (Rel. 7, Created)
Date 24-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0966
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63894
Feature /change: c -> t
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1237
Feature /codon: ctc -> ttc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature /change: L -> F
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
//
ID BTK_#L369X397(1); standard; MUTATION; SH2
Accession A0127
Systematic name g.63895_63896delTC, c.1106_1107delTC, r.1106_1107deluc,
Systematic name p.Leu369fsX28
Original code P61
Description A frame shift deletion mutation in the exon 13 leading to a
Description premature stop codon in the SH2 domain
Date 29-Jun-2004 (Rel. 7, Created)
Date 29-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11742281
RefAuthors Kanegane, H., Futatani, T., Wang, Y., Nomura, K.,
RefAuthors Shinozaki, K., Matsukura, H., Kubota, T., Tsukada, S.,
RefAuthors Miyawaki, T.
RefTitle Clinical and mutational characteristics of X-linked
RefTitle agammaglobulinemia and its carrier identified by flow
RefTitle cytometric assessment combined with genetic analysis.
RefLoc J Allergy Clin Immunol 108:1012-1020 (2001)
DB CrossRef BTKbase; A1039
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 63895..63896
Feature /change: -tc
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1238..1239
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature /change: L -> HIQAQISSVS TKQECTFHCR PGIRIMGNX
Feature /domain: SH2
Diagnosis Classical XLA
Age 1
Sex XY
Ethnic origin Mongoloid; Japan
Family history De novo
IgA 0
IgG 0.04
IgM 0.36
//
ID BTK_I370M(1); standard; MUTATION; SH2
Accession A0128
Original code 17/5
Description Missense mutation in the exon 13 leading to
Description amino acid change in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7711734
RefAuthors Vorechovsky, I., Vihinen, M., de Saint Basile, G.,
RefAuthors Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,
RefAuthors Fischer, A., Smith, C. I. E.
RefTitle DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle in patients with X-linked agammaglobulinemia
RefLoc Hum. Molec. Genet. 4:51-58(1995)
DB CrossRef SWISSCHANGE; BTK_HUMAN_31
DB CrossRef SWISS-PROT; Q06187:370_370
DB CrossRef BTKbase; A0116
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63899
Feature /change: a -> g
Feature /genomic_region: exon; 13
Feature /RE: +Hsp92II, +NlaIII, +PshAI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1242
Feature /codon: ata -> atg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 370
Feature /change: I -> M
Feature /domain: SH2
Protein struct Sterical reasons
Sex XY
//
ID BTK_S371P(2a); standard; MUTATION; SH2
Accession A0129
Systematic name g.63900T>C, c.1243T>C, p.S371P
Original code P16a
Description Point mutation in the exon 13 leading to an amino acid
Description change in the SH2 domain
Date 17-Jul-2003 (Rel. 7, Created)
Date 17-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12655572
RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M.,
RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M.,
RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M.,
RefAuthors Zelazko, M.
RefTitle Bruton tyrosine kinase gene mutations in argentina.
RefLoc Hum Mutat 21:451 (2003)
DB CrossRef BTKbase; A0883
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63900
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1243
Feature /codon: tcc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 371
Feature /change: S -> P
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Argentina
Family history Inherited
Relative BTKbase; A0884 brother
//
ID BTK_S371P(2b); standard; MUTATION; SH2
Accession A0130
Systematic name g.63900T>C, c.1243T>C, p.S371P
Original code P16b
Description Point mutation in the exon 13 leading to an amino acid
Description change in the SH2 domain
Date 17-Jul-2003 (Rel. 7, Created)
Date 17-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12655572
RefCrossRef Human Mutation, Mutation in Brief #602 (2003) Online
RefAuthors Danielian, S., El-Hakeh, J., Basilico, G., Oleastro, M.,
RefAuthors Rosenzweig, S., Feldman, G., Berozdnik, L., Galicchio, M.,
RefAuthors Gallardo, A., Giraudi, V., Liberatore, D., Rivas, E. M.,
RefAuthors Zelazko, M.
RefTitle Bruton tyrosine kinase gene mutations in argentina.
RefLoc Hum Mutat 21:451 (2003)
DB CrossRef BTKbase; A0884
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63900
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1243
Feature /codon: tcc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 371
Feature /change: S -> P
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Argentina
Family history Inherited
Relative BTKbase; A0883 brother
//
ID BTK_R372G(1); standard; MUTATION; SH2
Accession A0131
Original code 26 ref. [2]
Description Missense mutation in exon 13 leading to
Description amino acid change in SH2 domain
Date 15-May-1997 (Rel. 4, Created)
Date 21-Sep-2000 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (27-Aug-1996) to the BTKbase.
RefLoc Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky;
RefLoc Abteilung fur Infektionsimmunologia, Dr. von Haunersches
RefLoc Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc Lindwurmstrasse 4, D-80337 Munchen, Germany;
RefLoc FAX 498 951 604 928;
RefNumber [2]
RefLoc Dr. Elke Holinski-Feder, Dr. Alfons Meindl; Abteilung fur
RefLoc Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc der Universitat, Munchen, Goethestrasse 29, D-80336
RefLoc Munchen, Germany;
RefNumber [2]
RefCrossRef PUBMED; 9445504
RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R.,
RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle Mutation screening of the btk gene in 56 families with
RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle without correlation to clinical course
RefLoc Pediatrics 101:276-284(1998)
DB CrossRef BTKbase; A0377
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63903
Feature /change: a -> g
Feature /genomic_region: exon; 13
Feature /RE: +AsuC2I, +BanII, +BcnI, +BsiSI, +CauII, +Eco24I,
Feature /RE: +EcoT38I, +FriOI, +HapII, +HgiJII, +HpaII, +MspI,
Feature /RE: +NciI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1246
Feature /codon: agg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 372
Feature /change: R -> G
Feature /domain: SH2
Protein level Absent
Kinase activity Inactive
Protein struct On the domain surface opposite the phosphotyrosine protein
Protein struct binding region. Impaired domain-domain interaction;
Protein struct ref [2]
Sex XY
//
ID BTK_R372G(2); standard; MUTATION; SH2
Accession A0132
Original code F ref. [1]; 25 ref. [2]
Description Missense mutation in the exon 13 leading to
Description amino acid change in SH2 domain
Date 02-Jan-1997 (Rel. 4, Created)
Date 21-Sep-2000 (Rel. 7, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (01-Jan-1997) to the BTKbase.
RefLoc Dr. C.I.E. Smith; Center for BioTechnology, Department of
RefLoc Biosciences at Novum, Karolinska Institute, S-14157
RefLoc Huddinge, Sweden; e-mail edvard.smith@cbt.ki.se
RefNumber [2]
RefCrossRef PUBMED; 9445504
RefAuthors Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K. B.,
RefAuthors Nore, B., Backesjo, C. M., Vihinen, M., Hubbard, S. R.,
RefAuthors Belohradsky, B. H., Smith, C. I., Meindl, A.
RefTitle Mutation screening of the btk gene in 56 families with
RefTitle X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle without correlation to clinical course
RefLoc Pediatrics 101:276-284(1998)
DB CrossRef BTKbase; A0401
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63903
Feature /change: a -> g
Feature /genomic_region: exon; 13
Feature /RE: +AsuC2I, +BanII, +BcnI, +BsiSI, +CauII, +Eco24I,
Feature /RE: +EcoT38I, +FriOI, +HapII, +HgiJII, +HpaII, +MspI,
Feature /RE: +NciI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1246
Feature /codon: agg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 372
Feature /change: R -> G
Feature /domain: SH2
Protein struct On the domain surface opposite the phosphotyrosine protein
Protein struct binding region. Impaired domain-domain interaction;
Protein struct ref [2]
Sex XY
//
ID BTK_R372G(3); standard; MUTATION; SH2
Accession A0133
Systematic name g.63903A>G, c.1114A>G, r.1114a>g, p.Arg372Gly
Original code JDVO
Description A point mutation in the exon 13 leading to an amino acid
Description change in the SH2 domain
Date 16-May-2005 (Rel. 8, Created)
Date 16-May-2005 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (24-Mar-2004) to BTKbase.
RefLoc M. C. Garcia Rodriguez, G. Fontan; Unidad de Inmunologia,
RefLoc Hospital La Paz. Madrid, Spain; Tel 91 7277095; Fax 91
RefLoc 7277095; e-mail mcruzgarcia.hulp@salud.madrid.org
DB CrossRef BTKbase; A1059
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63903
Feature /change: a -> g
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1246
Feature /codon: agg -> ggg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 372
Feature /change: R -> G
Feature /domain: SH2
Protein level Absent
Diagnosis Classical XLA
Symptoms Otitis, Diarrhea
Age 4 months
Sex XY
Ethnic origin Caucasoid; Spain
Family history Inherited
Relative Description of pedigree:3 brothers death with rapid
Relative infections
CD19 0
//
ID BTK_K374N(1a); standard; MUTATION; SH2
Accession A0134
Original code P11a
Description Missense mutation in the exon 13 leading to amino acid
Description change in the SH2 domain
Date 03-Sep-2001 (Rel. 7, Created)
Date 03-Sep-2001 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11438999
RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira
RefAuthors Cerdan, A., Fontan Casariego, G.
RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in
RefTitle Spain
RefLoc Hum. Mut. 18:84 (2001)
DB CrossRef BTKbase; A0731
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63911
Feature /change: a -> c
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1254
Feature /codon: aaa -> aac; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 374
Feature /change: K -> N
Feature /domain: SH2
Diagnosis Classical XLA
Ethnic origin Spain
Family history Inherited
Relative BTKbase; A0732
//
ID BTK_K374N(1b); standard; MUTATION; SH2
Accession A0135
Original code P11b
Description Missense mutation in the exon 13 leading to amino acid
Description change in the SH2 domain
Date 03-Sep-2001 (Rel. 7, Created)
Date 03-Sep-2001 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11438999
RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira
RefAuthors Cerdan, A., Fontan Casariego, G.
RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in
RefTitle Spain
RefLoc Hum. Mut. 18:84 (2001)
DB CrossRef BTKbase; A0732
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63911
Feature /change: a -> c
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1254
Feature /codon: aaa -> aac; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 374
Feature /change: K -> N
Feature /domain: SH2
Diagnosis Classical XLA
Ethnic origin Spain
Family history Inherited
Relative BTKbase; A0731
//
ID BTK_Y375X(1); standard; MUTATION; SH2
Accession A0136
Original code 14
Description Nonsense mutation in the exon 13 leading to
Description stop codon in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7849697
RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors Parolini, O., Rohrer, J.
RefTitle Screening of genomic DNA to indentify mutations in the
RefTitle gene for Bruton's tyrosine kinase
RefLoc Hum. Molec. Genet. 3: 1751-1756(1994)
DB CrossRef OMIM; 300300.0030
DB CrossRef BTKbase; A0090
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63914
Feature /change: t -> g
Feature /genomic_region: exon; 13
Feature /RE: +CviJI, +CviJI, +MwoI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1257
Feature /codon: tat -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 375
Feature /change: Y -> X
Feature /domain: SH2
mRNA level absent
Protein struct Premature stop
Sex XY
Family history De novo
B cells surf Ig <1
Symptoms Growth hormone deficiency
//
ID BTK_Y375X(2); standard; MUTATION; SH2
Accession A0137
Original code 26
Description Nonsense mutation in the exon 13 leading to
Description stop codon in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (24-May-1995) to the BTKbase.
RefLoc Dr. Hans D. Ochs; Dept of Pediatrics, University of
RefLoc Washington, Seattle, WA 98195, USA;
RefLoc e-mail allgau@u.washington.edu
DB CrossRef BTKbase; A0181
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63914
Feature /change: t -> g
Feature /genomic_region: exon; 13
Feature /RE: +CviJI, +CviJI, +MwoI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1257
Feature /codon: tat -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 375
Feature /change: Y -> X
Feature /domain: SH2
Protein struct Premature stop
Sex XY
//
ID BTK_Y375X(3); standard; MUTATION; SH2
Accession A0138
Original code 37
Description Nonsense mutation in the exon 13 leading to
Description stop codon in SH2 domain
Date 02-Feb-1996 (Rel. 3, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9143921
RefAuthors Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S.,
RefAuthors Fiorini, N., Quinti, I., Paganelli, R., Segers, R.,
RefAuthors Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle Mutation pattern in the Bruton's tyrosine kinase gene in
RefTitle 26 unrelated patients with X-linked agammaglobulinemia
RefLoc Hum. Mut. 9:418-425 (1997)
DB CrossRef ESID; PT 0002 M90 G1
DB CrossRef BTKbase; A0236
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63914
Feature /change: t -> g
Feature /genomic_region: exon; 13
Feature /RE: +CviJI, +CviJI, +MwoI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1257
Feature /codon: tat -> tag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 375
Feature /change: Y -> X
Feature /domain: SH2
Protein struct Premature stop
Sex XY
//
ID BTK_Intron 9(4); standard; MUTATION; SH2
Accession A0139
Original code 1107
Description Point mutation in the intron 9
Date 28-Apr-1998 (Rel. 6, Created)
Date 01-Sep-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors Y., Rohrer, J.
RefTitle Mutations in Btk patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0489
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: U78027: 61392
Feature /change: unknown
Feature /note: 500 bp ins starting at +5
Feature /genomic_region: intron; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc:+5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Family history Inherited
//
ID BTK_Intron 10(1); standard; MUTATION; SH2
Accession A0140
Original code P18;
Description Point mutation at intron 10 leading to deletion of exons
Description 10 and 11 causing inframe deletion of 44 amino acids
Date 30-May-1995 (Rel. 1, Created)
Date 14-Sep-1997 (Rel. 5, Last updated, Version 6)
RefNumber [1]
RefCrossRef PUBMED; 8090769
RefAuthors Ohta, Y., Haire, R. N., Litman, R. T., Shu, M. F., Nelson,
RefAuthors R. P., Kratz, J., Kornfeld, S. J., De La Morena, M., Good,
RefAuthors R. A., Litman, G. W.
RefTitle Genomic organization and structure of Bruton
RefTitle agammaglobulinemia tyrosine kinase: Localization of
RefTitle mutations associated with varied clinical presentations and
RefTitle cource in X chromosome-linked agammaglobulinemia
RefLoc Proc. Natl. Acad. Sci. 91:9062-9066(1994)
DB CrossRef BTKbase; A0038
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62183
Feature /change: g -> a
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; inframe
Feature /loc: EMBL: X58957; GI:312466; HSATK: 972..1106
Feature /change: -gtggtattcc aaacacatga ctcggagtca ggctgagcaa
Feature /change: ctgctaaagc aagaggggaa agaaggaggt ttcattgtca
Feature /change: gagactccag caaagctggc aaatatacag tgtctgtgtt
Feature /change: tgctaaatcc acagg
Feature /note: deletion of exons 10 and 11
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 281..324
Feature /change: -WYSKHMTRSQ AEQLLKQEGK EGGFIVRDSS
Feature /change: KAGKYTVSVF AKST
Feature /domain: SH2
Protein struct Aberrant splicing
Diagnosis Classical XLA
Sex XY
Age 0.5
Family history Inherited
IgA 0.13
IgG nd
IgM 0.14
CD20 <1
Symptoms Otitis media, sinusitis
//
ID BTK_Intron 10(2); standard; MUTATION; SH2
Accession A0141
Original code E(III-2)
Description Deletion at intron 10 leading to aberrant splicing
Date 30-May-1995 (Rel. 1, Created)
Date 28-Aug-1997 (Rel. 5, Last updated, Version 5)
RefNumber [1]
RefCrossRef PUBMED; 7627183
RefAuthors Hagemann, T. L., Rosen, F. S., Kwan, S. P.
RefTitle Characterization of germline mutations of the gene
RefTitle encoding Bruton's tyrosine kinase in families with X-linked
RefTitle agammaglobulinemia
RefLoc Hum. Mutat. 5(1995)
DB CrossRef BTKbase; A0168
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62777
Feature /change: -a
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc:-2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Aberrant splicing
Diagnosis Classical XLA
Sex XY
Family history Inherited
IgA nd
IgE nd
IgG <10%
IgM nd
B cells surf Ig nd
//
ID BTK_Intron 10(4); standard; MUTATION; SH2
Accession A0142
Original code 11.2; 1120
Description One base pair deletion and 11 bp insertion at intron 10
Description causing deletion of a part of the protein
Date 09-Jan-1996 (Rel. 3, Created)
Date 05-Nov-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7554467
RefAuthors Conley, M. E., Rohrer, J.
RefTitle The spectrum of mutations in Btk that cause X-linked
RefTitle agammaglobulinemia
RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber [2]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, Y.,
RefAuthors Rohrer, J.
RefTitle Mutations in btk in patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am. J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0262
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: EMBL: U78027: 62769
Feature /change: g -> aggggaaaact
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 4
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Sex XY
Family history Inherited
//
ID BTK_Intron 10(5); standard; MUTATION; SH2
Accession A0143
Original code 11.3; 1131
Description A point mutation at intron 10 leading to splice defect
Date 09-Jan-1996 (Rel. 3, Created)
Date 11-Nov-1998 (Rel. 7, Last updated, Version 6)
RefNumber [1]
RefCrossRef PUBMED; 7554467
RefAuthors Conley, M. E., Rohrer, J.
RefTitle The spectrum of mutations in Btk that cause X-linked
RefTitle agammaglobulinemia
RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber [2]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, Y.,
RefAuthors Rohrer, J.
RefTitle Mutations in btk in patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am. J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0263
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62777
Feature /change: a -> c
Feature /genomic_region: intron; 10
Feature /RE: +AsuC2I, +BcnI, +BsaJI, +BseDI, +BsiSI, +BssECI,
Feature /RE: +BssKI, +CauII, +HapII, +HpaII, +MspI, +MspR9I,
Feature /RE: +NciI, +ScrFI, +SecI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Diagnosis Classical XLA
Sex XY
Family history Inherited
//
ID BTK_Intron 10(6); standard; MUTATION; SH2
Accession A0144
Original code 11.31; 1130
Description Deletion at intron 10 leading to splice defect
Date 09-Jan-1996 (Rel. 3, Created)
Date 11-Nov-1998 (Rel. 7, Last updated, Version 6)
RefNumber [1]
RefCrossRef PUBMED; 7554467
RefAuthors Conley, M. E., Rohrer, J.
RefTitle The spectrum of mutations in Btk that cause X-linked
RefTitle agammaglobulinemia
RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber [2]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, Y.,
RefAuthors Rohrer, J.
RefTitle Mutations in btk in patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am. J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0264
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62777
Feature /change: -a
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Sex XY
Family history Inherited
//
ID BTK_Intron 10(7); standard; MUTATION; SH2
Accession A0145
Original code 11.33; 1133
Description Point mutation at intron 10 leading to splice defect
Date 09-Jan-1996 (Rel. 3, Created)
Date 10-Nov-1998 (Rel. 7, Last updated, Version 6)
RefNumber [1]
RefCrossRef PUBMED; 7554467
RefAuthors Conley, M. E., Rohrer, J.
RefTitle The spectrum of mutations in Btk that cause X-linked
RefTitle agammaglobulinemia
RefLoc Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber [2]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi, Y.,
RefAuthors Rohrer, J.
RefTitle Mutations in btk in patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am. J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0265
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62778
Feature /change: g -> a
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Sex XY
Family history Inherited
//
ID BTK_Intron 10(8); standard; MUTATION; SH2
Accession A0146
Original code G8867
Description Point mutation at intron 10
Date 07-Sep-1997 (Rel. 5, Created)
Date 20-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Sep-1997) to the BTKbase.
RefLoc Dr. Tracy Lester; Unit of Clinical Genetics, Institute
RefLoc of Child Health, 30 Guilford Street, London, WC1N 1EH;
RefLoc Tel 0171 242 9789 ext 2284; Fax 0171 404 6191;
RefLoc e-mail T.Lester@ich.ucl.ac.uk
DB CrossRef BTKbase; A0443
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62183
Feature /change: g -> c
Feature /genomic_region: intron; 10
Feature /RE: +AluI, +BstDEI, +BstDEI, +CviJI, +CviJI, +DdeI,
Feature /RE: +DdeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Sex XY
Ethnic origin Caucasoid; Cyprus
Family history Inherited
//
ID BTK_Intron 10(9); standard; MUTATION; SH2
Accession A0147
Original code G.O.
Description Point mutation at intron 10 leading to aberrant splicing
Date 16-Aug-1999 (Rel. 7, Created)
Date 16-Aug-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Jul-1999) to the BTKbase.
RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc e-mail maryellen.conley@stjude.org
DB CrossRef BTKbase; A0573
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62778
Feature /change: g -> a
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Family history De novo
//
ID BTK_Intron 10(10); standard; MUTATION; SH2
Accession A0148
Original code P9
Description Mutation at intron 10
Date 03-Sep-2001 (Rel. 7, Created)
Date 03-Sep-2001 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11438999
RefCrossRef Human Mutation, Mutation in Brief #427 (2001) Online
RefAuthors Garcia Rodriguez, M. C., Lopez Granados, E., Ferreira
RefAuthors Cerdan, A., Fontan Casariego, G.
RefTitle Molecular Analysis of Bruton's Tyrosine Kinase Gene in
RefTitle Spain
RefLoc Hum. Mut. 18:84 (2001)
DB CrossRef BTKbase; A0730
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62183
Feature /change: g -> t
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Diagnosis Classical XLA
Ethnic origin Spain
Family history Inherited
//
ID BTK_Intron 10(11); standard; MUTATION; SH2
Accession A0149
Systematic name g.IVS10-1G>A, c.895-1G>A, r.895-1g>a,
Original code 1134 170
Description A point mutation in the intron 10 leading to an amino acid
Description change in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1115
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62778
Feature /change: g -> a
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_Intron 11(1); standard; MUTATION; SH2
Accession A0150
Original code 12
Description Deletion at intron 11 leading to aberrant splicing
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 5)
RefNumber [1]
RefCrossRef PUBMED; 7849697
RefAuthors Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors Parolini, O., Rohrer, J.
RefTitle Screening of genomic DNA to indentify mutations in the
RefTitle gene for Bruton's tyrosine kinase
RefLoc Hum. Molec. Genet. 3: 1751-1756(1994)
DB CrossRef OMIM; 300300.0028
DB CrossRef BTKbase; A0101
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 62859
Feature /change: -g
Feature /genomic_region: intron; 11
Feature /RE: -AocI, -AspS9I, -AsuI, -AxyI, -Bse21I, -BshI,
Feature /RE: -BsiZI, -BstDEI, -Bsu36I, -BsuRI, -Cfr13I, -CviJI,
Feature /RE: -CvnI, -DdeI, -DraII, -Eco81I, -EcoO109I, -HaeIII,
Feature /RE: -PalI, -SauI, -Sau96I,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; unknown
Feature /inexloc:+1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Aberrant splicing
Sex XY
Family history De novo
B cells surf Ig <1
//
ID BTK_Intron 11(2); standard; MUTATION; SH2
Accession A0151
Original code 43; Intron 10(3)
Description Point mutation at intron 11 leading to aberrant splicing
Date 30-May-1995 (Rel. 1, Created)
Date 14-Sep-1997 (Rel. 5, Last updated, Version 6)
RefNumber [1]
RefCrossRef PUBMED; 7633420
RefAuthors Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P.,
RefAuthors Vorechovsky, I., Hammarstrom, L.,
RefAuthors Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors Vetrie, D.
RefTitle Identification of Btk mutations in 20 unrelated patients
RefTitle with X-linked agammaglobulinemia (XLA)
RefLoc Hum. Molec. Genet. 4: 693-700(1995)
DB CrossRef BTKbase; A0145
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62862
Feature /change: a -> t
Feature /genomic_region: intron; 11
Feature /RE: +CjeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 895..974
Feature /change: - gggaaagaag gaggtttcat tgtcagagac tccagcaaag
Feature /change: ctggcaaata tacagtgtct gtgtttgcta aatccacagg
Feature /note: deletion of exon 11
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 300
Feature /change: K -> PSRGDTSLCC VFHTSEPVLP GX
Feature /domain: SH2
Protein struct Aberrant splicing
Diagnosis Moderate XLA
Sex XY
Age 4
Family history Inherited
IgG 1
B cells surf Ig <1
//
ID BTK_Intron 11(3); standard; MUTATION; SH2
Accession A0152
Original code D.S.
Description Point mutation at intron 11 leading to aberrant splicing
Date 16-Aug-1999 (Rel. 7, Created)
Date 16-Aug-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (07-Jul-1999) to the BTKbase.
RefLoc Dr. Mary-Ellen Conley; Department of Immunology, St. Jude
RefLoc Children's Research Hospital, 332 N. Lauderdale, Memphis,
RefLoc TN 38105-2794; Tel 901-495-2576; Fax 901-495-3977;
RefLoc e-mail maryellen.conley@stjude.org
DB CrossRef BTKbase; A0575
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62868
Feature /change: g -> a
Feature /genomic_region: intron; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Family history De novo
//
ID BTK_Intron 11(4); standard; MUTATION; SH2
Accession A0153
Systematic name g.IVS11+3G>T
Description Point mutation in the intron 11 leading to skipping
Description of exon 11
Date 20-Sep-2001 (Rel. 7, Created)
Date 20-Sep-2001 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11192530
RefAuthors Shinomiya, N., Kanegane, H., Watanabe, A., Yamaguchi, Y.,
RefAuthors Futatani, T., Miyawaki, T.
RefTitle Point mutation in intron 11 of Bruton's tyrosine kinase in
RefTitle atypical X-linked agammaglobulinemia.
RefLoc Pediatr. Int. 42:689-692 (2000)
DB CrossRef BTKbase; A0775
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62861
Feature /change: g -> t
Feature /genomic_region: intron; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /inexloc: +3
Feature /loc: EMBL: X58957; GI:312466; HSATK: 895..974
Feature /change: - gggaaagaag gaggtttcat tgtcagagac tccagcaaag
Feature /change: ctggcaaata tacagtgtct gtgtttgcta aatccacagg
Feature /note: skipping of exon 11
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 300
Feature /change: K -> PSRGDTSLCC VFHTSEPVLP GX
Feature /domain: SH2
Protein level Much reduced
Diagnosis Mild XLA
Sex XY
Age 2.67
Ethnic origin Japan
Family history Inherited
IgA 0.08
IgG 1.43
IgM 0.42
//
ID BTK_Intron 11(5); standard; MUTATION; SH2
Accession A0154
Systematic name g.IVS11+1G>A
Original code P1
Description Point mutation in the intron 11 leading to an amino acid
Description change in the SH2 domain
Date 18-Jul-2003 (Rel. 7, Created)
Date 18-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12768435
RefAuthors Jo, E. K., Wang, Y., Kanegane, H., Futatani, T., Song, C.
RefAuthors H., Park, J. K., Kim, J. S., Kim, D. S., Ahn, K. M., Lee,
RefAuthors S. I., Park, H. J., Hahn, Y. S., Lee, J. H., Miyawaki, T.
RefTitle Identification of mutations in the bruton's tyrosine
RefTitle kinase gene, including a novel genomic rearrangements
RefTitle resulting in large deletion, in korean X-linked
RefTitle agammaglobulinemia patients.
RefLoc J Hum Genet 48:322-326 (2003)
DB CrossRef BTKbase; A0910
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62859
Feature /change: g -> a
Feature /genomic_region: intron; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Diagnosis Classical XLA
Symptoms Pneumonia, otitis media, sepsis
Sex XY
Age 4.5
Ethnic origin Korea
IgA 0.15
IgG 0.7
IgM 0.35
B cells 0
//
ID BTK_Intron 11(6); standard; MUTATION; SH2
Accession A0155
Systematic name g.IVS11+5G>T, c.974+5G>T, r.974+5g>u,
Original code 1203 131
Description A point mutation in the intron 11 leading to an amino acid
Description change in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1118
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62863
Feature /change: g -> t
Feature /genomic_region: intron; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_Intron 11(7); standard; MUTATION; SH2
Accession A0156
Systematic name g.IVS11+5G>T, c.974+5G>T, r.974+5g>u,
Original code 1204 183
Description A point mutation in the intron 11 leading to an amino acid
Description change in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1119
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 62863
Feature /change: g -> t
Feature /genomic_region: intron; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_Intron 12(1a); standard; MUTATION; SH2
Accession A0157
Description Point mutation and deletion at intron 12 leading to stop
Description codon in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 6)
RefNumber [1]
RefCrossRef PUBMED; 7849721
RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle unrelated X-linked agammaglobulinemia families
RefLoc Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef OMIM; 300300.0029
DB CrossRef BTKbase; A0067
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63890
Feature /change: a -> t
Feature /genomic_region: intron; 12
Feature /RE: +BspGI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1103..1115
Feature /change: -gactcatatccag
Feature /genomic_region: exon; 13
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature /change: L -> SNIQCLNKTR MHLPLQAWDT DHGKLIQRTX
Feature /domain: SH2
Protein struct Premature stop
Sex XY
Family history Inherited
Relative BTKbase; A0068
Relative BTKbase; A0069
Relative BTKbase; A0463 grand son
//
ID BTK_Intron 12(1b); standard; MUTATION; SH2
Accession A0158
Description Point mutation and deletion at intron 12 leading to stop
Description codon in SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 6)
RefNumber [1]
RefCrossRef PUBMED; 7849721
RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle unrelated X-linked agammaglobulinemia families
RefLoc Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef OMIM; 300300.0029
DB CrossRef BTKbase; A0068
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63890
Feature /change: a -> t
Feature /genomic_region: intron; 12
Feature /RE: +BspGI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1103..1115
Feature /change: -gactcatatccag
Feature /genomic_region: exon; 13
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature /change: L -> SNIQCLNKTR MHLPLQAWDT DHGKLIQRTX
Feature /domain: SH2
Protein struct Premature stop
Sex XY
Family history Inherited
Relative BTKbase; A0067
Relative BTKbase; A0069
Relative BTKbase; A0463
//
ID BTK_Intron 12(1c); standard; MUTATION; SH2
Accession A0159
Description Point mutation at intron 12 leading stop codon SH2 domain
Date 30-May-1995 (Rel. 1, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 6)
RefNumber [1]
RefCrossRef PUBMED; 7849721
RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle unrelated X-linked agammaglobulinemia families
RefLoc Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef OMIM; 300300.0029
DB CrossRef BTKbase; A0069
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63890
Feature /change: a -> t
Feature /genomic_region: intron; 12
Feature /RE: +BspGI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1103..1115
Feature /change: -gactcatatccag
Feature /genomic_region: exon; 13
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature /change: L -> SNIQCLNKTR MHLPLQAWDT DHGKLIQRTX
Feature /domain: SH2
Protein struct Premature stop
Sex XY
Family history Inherited
Relative BTKbase; A0067
Relative BTKbase; A0068
Relative BTKbase; A0463
//
ID BTK_Intron 12(1d); standard; MUTATION; SH2
Accession A0160
Description Point mutation and deletion at intron 12 leading to stop
Description codon in SH2 domain
Date 22-Sep-1995 (Rel. 5, Created)
Date 02-Feb-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7849721
RefAuthors Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle unrelated X-linked agammaglobulinemia families
RefLoc Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef OMIM; 300300.0029
DB CrossRef BTKbase; A0463
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63890
Feature /change: a -> t
Feature /genomic_region: intron; 12
Feature /RE: +BspGI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /loc:EMBL: X58957; GI:312466; HSATK: 1103..1115
Feature /change: -gactcatatccag
Feature /genomic_region: exon; 13
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q06187; BTK_HUMAN: 369
Feature /change: L -> SNIQCLNKTR MHLPLQAWDT DHGKLIQRTX
Feature /domain: SH2
Protein struct Premature stop
Sex XY
Family history Inherited
Relative BTKbase; A0067 grandfather
Relative BTKbase; A0068
Relative BTKbase; A0069
//
ID BTK_Intron 12(2); standard; MUTATION; SH2
Accession A0161
Original code G16648
Description Deletion at intron 12
Date 16-Oct-1998 (Rel. 6, Created)
Date 16-Oct-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (16-Oct-1998) to BTKbase.
RefLoc Dr. Tracy Lester; Clinical Molecular Genetics Laboratory,
RefLoc Level 5, Camelia Botnar Laboratories, Great Ormond Street
RefLoc Hospital for Children NHS Trust, Great Ormond Street,
RefLoc London, WC1N 3JH;
RefLoc e-mail tracy.lester@gosh-tr.nthames.nhs.uk
DB CrossRef BTKbase; A0519
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 63165
Feature /change: -ggtgagtacca
Feature /genomic_region: intron;12
Feature /RE: -BstDEI, -DdeI,
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc:+1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
//
ID BTK_Intron 12(3); standard; MUTATION; SH2
Accession A0162
Systematic name g.IVS12+1G>A, c.1102+1G>A, r.1102+1g>a,
Original code Patient 26
Description A point mutation in the intron 12 leading to an amino acid
Description change in the SH2 domain
Date 23-Jun-2004 (Rel. 7, Created)
Date 23-Jun-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14974089
RefAuthors Fiorini, M., Franceschini, R., Soresina, A., Schumacher,
RefAuthors R. F., Ugazio, A. G., Rossi, P., Plebani, A., Notarangelo,
RefAuthors L. D.
RefTitle BTK: 22 novel and 25 recurrent mutations in european
RefTitle patients with X-linked agammaglobulinemia.
RefLoc Hum Mutat 23:286 (2004)
DB CrossRef BTKbase; A0965
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63166
Feature /change: g -> a
Feature /genomic_region: intron; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Diagnosis Classical XLA
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
//
ID BTK_Intron 12(4); standard; MUTATION; SH2
Accession A0163
Systematic name g.IVS12-1G>A, c.1103-1G>A, r.1103-1g>a,
Original code 1330 284
Description A point mutation in the intron 12 leading to an amino acid
Description change in the SH2 domain
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1127
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63891
Feature /change: g -> a
Feature /genomic_region: intron; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Diagnosis Classical XLA
//
ID BTK_Intron 12(5); standard; MUTATION; SH2
Accession A0164
Systematic name g.IVS12+1G>A, c.1102+1G>A, r.1102+1g>a,
Original code P7
Description A point mutation in the intron 12 leading to an amino acid
Description change in the SH2 domain
Date 26-May-2006 (Rel. 8, Created)
Date 26-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefAuthors Aghamohammadi, A., Parvaneh, N., Kanegana, H., Moin, M.,
RefAuthors Amirzargar, A. A., Farhoudi, A., Pourpak, Z., Movahedi, M.,
RefAuthors Gharagozlou, M., Rezaei, N., Futatani, T., Miyawaki, T.
RefTitle Screening of the Bruton tyrosine kinase (BTK) gene mutations
RefTitle in 13 Iranian patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Iran J Allergy Asthma Immunol 3:175-179 (2004)
DB CrossRef BTKbase; A1198
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 63166
Feature /change: g -> a
Feature /genomic_region: intron; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Diagnosis Classical XLA
Age 5
Sex XY
Ethnic origin Caucasoid; Iran
Family history De novo
IgA 0.05
IgG 0.5
IgM 0.1
B cells <1%
//
ID BTK_Deletion (1); standard; MUTATION; GROSS
Accession A0165
Original code D; BaW
Description Large undefined deletion
Date 30-May-1995 (Rel. 1, Created)
Date 05-Nov-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8380905
RefAuthors Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J.,
RefAuthors Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C.,
RefAuthors Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R.
RefTitle The gene involved in X-linked agammaglobulinemia is
RefTitle a member of the src family of protein-tyrosine kinases
RefLoc Nature 361:226-233(1993)
DB CrossRef BTKbase; A0005
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: unknown
Feature /note: entirely intragenic deletion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Protein struct Large deletion
Diagnosis Classical XLA
Sex XY
Family history Inherited
IgA 0.07
IgM 0.06
//
ID BTK_Deletion (2); standard; MUTATION; GROSS
Accession A0166
Original code E
Description Large undefined deletion
Date 30-May-1995 (Rel. 1, Created)
Date 05-Nov-1999 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8380905
RefAuthors Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J.,
RefAuthors Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C.,
RefAuthors Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R.
RefTitle The gene involved in X-linked agammaglobulinemia is
RefTitle a member of the src family of protein-tyrosine kinases
RefLoc Nature 361:226-233(1993)
DB CrossRef BTKbase; A0006
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: unknown
Feature /note: entirely intragenic deletion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Protein struct Large deletion
Diagnosis Classical XLA
Sex XY
Family history Inherited
//
ID BTK_Deletion (3); standard; MUTATION; GROSS
Accession A0167
Original code G
Description Large undefined deletion
Date 30-May-1995 (Rel. 1, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8380905
RefAuthors Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J.,
RefAuthors Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C.,
RefAuthors Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R.
RefTitle The gene involved in X-linked agammaglobulinemia is
RefTitle a member of the src family of protein-tyrosine kinases
RefLoc Nature 361:226-233(1993)
DB CrossRef BTKbase; A0007
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Protein struct Large deletion
Diagnosis Classical XLA
Sex XY
Family history Inherited
//
ID BTK_Deletion (4); standard; MUTATION; GROSS
Accession A0168
Original code H
Description Large undefined deletion
Date 30-May-1995 (Rel. 1, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8380905
RefAuthors Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J.,
RefAuthors Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C.,
RefAuthors Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R.
RefTitle The gene involved in X-linked agammaglobulinemia is
RefTitle a member of the src family of protein-tyrosine kinases
RefLoc Nature 361:226-233(1993)
DB CrossRef BTKbase; A0008
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Protein struct Large deletion
Diagnosis Classical XLA
Sex XY
Family history Inherited
//
ID BTK_Deletion (5); standard; MUTATION; GROSS
Accession A0169
Original code P2
Description Large undefined deletion
Date 26-Sep-1995 (Rel. 3, Created)
Date 09-Nov-1998 (Rel. 7, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8834236
RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R.,
RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle Mutations of the Btk gene in 12 unrelated families
RefTitle with X-linked agammaglobulinemia in Japan
RefLoc Hum. Genet. 97:424-430(1996)
RefNumber [2]
RefCrossRef PUBMED; 9427714
RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors Yoshizaki, K., Kishimoto, T.
RefTitle Deficient expression of Bruton's tyrosine kinase in
RefTitle monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle a flow cytometric analysis and its clinical application to
RefTitle carrier detection
RefLoc Blood 91:595-602(1998)
DB CrossRef BTKbase; A0222
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Protein level Absent; ref [2]
Kinase activity Inactive; ref [2]
Protein struct Large deletion
Diagnosis Classical XLA
Sex XY
Age 1.3
Family history Inherited
IgA <0.10
IgG <1.0
IgM <0.10
B cells surf Ig 8
//
ID BTK_Deletion (6); standard; MUTATION; GROSS
Accession A0170
Original code P18
Description Large undefined deletion
Date 26-Sep-1995 (Rel. 3, Created)
Date 12-Jun-1997 (Rel. 5, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8834236
RefAuthors Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R.,
RefAuthors Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle Mutations of the Btk gene in 12 unrelated families
RefTitle with X-linked agammaglobulinemia in Japan
RefLoc Hum. Genet. 97:424-430(1996)
DB CrossRef BTKbase; A0223
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Protein struct Large deletion
Sex XY
Age 5
Family history Inherited
IgA <0.08
IgG 1.40
IgM <0.5
//
ID BTK_Deletion (8); standard; MUTATION; GROSS
Accession A0171
Original code P11
Description Large deletion at the 3' terminal half
Date 19-Aug-1996 (Rel. 4, Created)
Date 02-Nov-2007 (Rel. 9, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 8695804
RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T.,
RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N.,
RefAuthors Kishimoto, T.
RefTitle Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle mutations and characterization of the derived proteins in
RefTitle 35 X-linked agammaglobulinemia families: a nationwide
RefTitle study of Btk deficiency in Japan
RefLoc Blood 88:561-573(1996)
RefNumber [2]
RefCrossRef PUBMED; 9427714
RefAuthors Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors Yoshizaki, K., Kishimoto, T.
RefTitle Deficient expression of Bruton's tyrosine kinase in
RefTitle monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle a flow cytometric analysis and its clinical application to
RefTitle carrier detection
RefLoc Blood 91:595-602(1998)
DB CrossRef BTKbase; A0323
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: EMBL: U78027: 62176..>71612
Feature /note: at the 3' terminal half
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /loc: EMBL: X58957; GI:312466; HSATK: 1020..>2132
Feature /name: deletion; partial
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Protein level Absent; ref [2]
Sex XY
Age 7
Ethnic origin Mongoloid; Japan
Family history De novo
IgA 0.31
IgG 2.11
IgM 0.51
B cells surf Ig 0.1
//
ID BTK_Deletion (9); standard; MUTATION; GROSS
Accession A0172
Original code P35
Description Large deletion at the 5' terminal half
Date 19-Aug-1996 (Rel. 4, Created)
Date 02-Nov-2007 (Rel. 9, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 8695804
RefAuthors Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T.,
RefAuthors Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N.,
RefAuthors Kishimoto, T.
RefTitle Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle mutations and characterization of the derived proteins in
RefTitle 35 X-linked agammaglobulinemia families: a nationwide
RefTitle study of Btk deficiency in Japan
RefLoc Blood 88:561-573(1996)
DB CrossRef BTKbase; A0324
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: EMBL: U78027: <35394..67551
Feature /note: the 5' terminal half
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /loc: EMBL: X58957; GI:312466; HSATK: <76..1828
Feature /name: deletion; partial
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Sex XY
Age 2
Ethnic origin Mongoloid; Japan
Family history De novo
IgA <0.06
IgG <0.26
IgM <0.12
B cells surf Ig 1
//
ID BTK_Deletion (10); standard; MUTATION; GROSS
Accession A0173
Original code 3
Description Large undefined deletion
Date 28-Apr-1998 (Rel. 6, Created)
Date 28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors Y., Rohrer, J.
RefTitle Mutations in Btk patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0482
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: unknown
Feature /note: more than 30 kb
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Classical XLA
Sex XY
Family history de novo
//
ID BTK_Deletion (11); standard; MUTATION; GROSS
Accession A0174
Original code 0850
Description Large undefined deletion
Date 28-Apr-1998 (Rel. 6, Created)
Date 28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors Y., Rohrer, J.
RefTitle Mutations in Btk patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0485
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: unknown
Feature /note: about 2.6 kb
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Classical XLA
Sex XY
Family history Inherited
//
ID BTK_Deletion (12); standard; MUTATION; GROSS
Accession A0175
Original code 2430
Description Large undefined deletion
Date 28-Apr-1998 (Rel. 6, Created)
Date 28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors Y., Rohrer, J.
RefTitle Mutations in Btk patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0508
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: unknown
Feature /note: 7.5 kb
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain:TK
Diagnosis Classical XLA
Sex XY
Family history Inherited
//
ID BTK_Deletion (13); standard; MUTATION; GROSS
Accession A0176
Original code 2433
Description Large undefined deletion
Date 28-Apr-1998 (Rel. 6, Created)
Date 28-Apr-1998 (Rel. 6, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9545398
RefAuthors Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors Y., Rohrer, J.
RefTitle Mutations in Btk patients with presumed X-linked
RefTitle agammaglobulinemia
RefLoc Am J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef BTKbase; A0509
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: unknown
Feature /note: 12 kb
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain:TK
Diagnosis Classical XLA
Sex XY
Family history Inherited
//
ID BTK_Deletion (16); standard; MUTATION; SH2
Accession A0177
Original code P6
Description Deletion of exon 2 and 3
Date 30-Nov-1999 (Rel. 7, Created)
Date 04-Oct-2001 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10737994
RefCrossRef Human Mutation, Mutation in Brief #312 (2000) Online
RefAuthors Yip, K. L., Chan, S. Y., Ip, W. K., Lau, Y. L.
RefTitle Bruton's tyrosine kinase mutations in 8 chinese families
RefTitle with X-linked agammaglobulinemia
RefLoc Hum. Mutat. 15:355 (2000)
DB CrossRef BTKbase; A0631
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion; partial
Feature /loc: EMBL: U78027: unknown
Feature /changelenght: -268
Feature /genomic_region: exon; 2.3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /loc: EMBL: X58957; GI:312466; HSATK: 103..372
Feature /change: -cacacaggtg aactccagaa agaagaagct atggccgcag
Feature /change: tgattctgga gagcatcttt ctgaagcgat cccaacagaa
Feature /change: aaagaaaaca tcacctctaa acttcaagaa gcgcctgttt
Feature /change: ctcttgaccg tgcacaaact ctcctactat gagtatgact
Feature /change: ttgaacgtgg gagaagaggc agtaagaagg gttcaataga
Feature /change: tgttgagaag atcacttgtg ttgaaacagt ggttcctgaa
Feature /change: aaaaatcctc ctccagaaag acagattccg
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /domain: SH2
//
ID BTK_Deletion (18); standard; MUTATION; GROSS
Accession A0178
Original code P7
Systematic name g.61578_62564del
Description Deletion of 980 bp including the end of intron 9, exon 10
Description and the beginning of intron 11
Date 28-Sep-2001 (Rel. 7, Created)
Date 28-Sep-2001 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11564824
RefAuthors Jo, E. K., Kanegane, H., Nonoyama, S., Tsukada, S., Lee,
RefAuthors J. H., Lim, K., Shong, M., Song, C. H., Kim, H. J., Park,
RefAuthors J. K., Miyawaki, T.
RefTitle Characterization of mutations, including a novel
RefTitle regulatory defect in the first intron, in Bruton's
RefTitle tyrosine kinase gene from seven Korean X-linked
RefTitle agammaglobulinemia families.
RefLoc J. Immunol. 167:4038-4045 (2001)
DB CrossRef BTKbase; A0793
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: U78027: 61578..62564
Feature /change: -tgtgtatata tatatataca cttttttcta ctttcaacat
Feature /change: attttttatt tcaagatata tattaaaatt agtaccatct
Feature /change: gaatcaaatg atgccaccac ctcaaattag tgtatctgtc
Feature /change: ttacctttac cccccaaaca ccctccattt atgagagctg
Feature /change: gagaggtcac catgccctca aatccagaag aatcacactc
Feature /change: aaagaaaaag gagttgacga cctgatgaaa gaattaaaat
Feature /change: gtcaaactgc tactgttgtc ctttcctccc taatcatgga
Feature /change: agtggattgt tctcaagtgc cctagtccct gatctcttcc
Feature /change: ctgcaactcc ctgctgcttg cctttgcctg ctactctcca
Feature /change: tttccatgaa tcttcaatgc caacctgggt ttgggaaagg
Feature /change: gatacagtgt gctatgcaca tgacagatgc tcagtaaata
Feature /change: gggtttgagt gagttgactg aatcactgac atggacaagc
Feature /change: cctggagggt gctgtaacct ccaatctgct tatgaccagg
Feature /change: agccactcaa gcagcactct cccttcacag gtggtattcc
Feature /change: aaacacatga ctcggagtca ggctgagcaa ctgctaaagc
Feature /change: aagaggtaag tgtggaacca ctagcacaca gcattctcct
Feature /change: tgcataagtg aggatcttga actgagggcc tgttctgccc
Feature /change: cctacctttg ggcaaggcag tgtcaaagct gccatcgtct
Feature /change: gggatcccaa ttacaccatt ttttttgttt ttgtttttct
Feature /change: gagacggact ctcggtctgt cacccaggct ggagtgcagt
Feature /change: ggcgtgatct gggctcactg caacctccgc cttctgggtt
Feature /change: caagtaattc tcctacctca gcctcccaag tagctgggat
Feature /change: tacaggcaca tgccaccacg cccgactaat ttttgtattt
Feature /change: ttagcagaga cggggtttca ccatgttggc caggctggtc
Feature /change: tcgaactcct gacctcaggt gatccgc
Feature /genomic_region: intron; 9, exon; 10, intron 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +191
Feature /inexloc: -215
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH3
Feature /domain: SH2
Diagnosis Classical XLA
Symptoms Recurrent respiratory infections
Sex XY
Age 6
Family history De novo
Ethnic origin Korea
IgA 0.07
IgG 0.33
IgM 0.07
B cells 0.3%
//
ID BTK_Deletion (19); standard; MUTATION; GROSS
Accession A0179
Systematic name g.IVS10_IVS18del
Original code P4
Description Deletion of 6074 bp due to unequal homologous recombination
Description between two Alu elements
Date 21-Jul-2003 (Rel. 7, Created)
Date 21-Jul-2003 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12768435
RefAuthors Jo, E. K., Wang, Y., Kanegane, H., Futatani, T., Song, C.
RefAuthors H., Park, J. K., Kim, J. S., Kim, D. S., Ahn, K. M., Lee,
RefAuthors S. I., Park, H. J., Hahn, Y. S., Lee, J. H., Miyawaki, T.
RefTitle Identification of mutations in the bruton's tyrosine
RefTitle kinase gene, including a novel genomic rearrangements
RefTitle resulting in large deletion, in korean X-linked
RefTitle agammaglobulinemia patients.
RefLoc J. Hum. Genet. 48:322-326 (2003)
DB CrossRef BTKbase; A0913
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: U78027: 60711
Feature /changelenght: -6074
Feature /genomic_region: exon; 10.18
Feature /note: deletion between Alu at U78027:62318-62619 and
Feature /note: Alu at U78027:68391-68559
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Protein level Much reduced
Diagnosis Classical XLA
Symptoms Frequent URTI, pneumonia
Sex XY
Age 2
Ethnic origin Korea
IgA 0.07
IgG 0.33
IgM 0.17
B cells 0%
//
ID BTK_Deletion (20); standard; MUTATION; GROSS
Accession A0180
Systematic name g.IVS2_IVS3del
Original code 0064 235
Description Deletion of 3 kb of exons 2 and 3
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1080
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /changelenght: -3 kb
Feature /genomic_region: exon; 2.3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Classical XLA
//
ID BTK_Deletion (21); standard; MUTATION; GROSS
Accession A0181
Original code 0704 232
Description Deletion of 4.2 kb of exons 6 and 7 with insertion of
Description inverted sequence from intron 5
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1095
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /genomic_region: exon; 6.7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Classical XLA
//
ID BTK_Deletion (22); standard; MUTATION; GROSS
Accession A0182
Original code 0705 201
Description Deletion of exons 6 and 7
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1096
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 6.7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Classical XLA
//
ID BTK_Deletion (23); standard; MUTATION; GROSS
Accession A0183
Original code 1205 213
Description Deletion of 18-25 kb of exons 12-19 and deletion of DDP
Date 09-May-2006 (Rel. 8, Created)
Date 09-May-2006 (Rel. 8, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15661032
RefAuthors Conley, M. E., Broides, A., Hernandez-Trujillo, V.,
RefAuthors Howard, V., Kanegane, H., Miyawaki, T., Shurtleff, S. A.
RefTitle Genetic analysis of patients with defects in early B-cell
RefTitle development.
RefLoc Immunol Rev 203:216-234 (2005)
DB CrossRef BTKbase; A1120
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 12.19
Feature /note: deletion of DDP
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Classical XLA
//
ID PIK3R1_R409Q(1); standard; MUTATION; SH2_1
Accession A0184
Systematic name g.78635G>A, c.1226G>A, r.1226g>a, p.Arg409Gln
Description A point mutation in the exon 9 leading to an amino acid
Description change in the SH2_1 domain
Date 20-Feb-2008 (Rel. 1, Created)
Date 20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10768093
RefAuthors Baynes, K. C., Beeton, C. A., Panayotou, G., Stein, R.,
RefAuthors Soos, M., Hansen, T., Simpson, H., O'Rahilly, S.,
RefAuthors Shepherd, P. R., Whitehead, J. P.
RefTitle Natural variants of human p85 alpha phosphoinositide 3-
RefTitle kinase in severe insulin resistance: a novel variant with
RefTitle impaired insulin-stimulated lipid kinase activity.
RefLoc Diabetologia:321-331 (2000)
DB CrossRef PIK3R1base; A0001
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PIK3R1_DNA: 78635
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_181523.1; GI:32455247; NM_181523: 1268
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P27986; P85A_HUMAN: 409
Feature /change: R -> Q
Feature /domain: SH2_1
Diagnosis Severe insulin resistance
//
ID PTPN11_T42A(1); standard; MUTATION; SH2_1
Accession A0185
Systematic name g.28654A>G, c.124A>G, r.124a>g, p.Thr42Ala
Description A point mutation in the exon 2 leading to an amino acid
Description change in the SH2_1 domain
Date 15-Feb-2008 (Rel. 1, Created)
Date 15-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12960218
RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C.,
RefAuthors Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V.,
RefAuthors Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle Correlation between PTPN11 gene mutations and congenital
RefTitle heart defects in noonan and LEOPARD syndromes.
RefLoc J Med Genet:704-708 (2003)
DB CrossRef PTPN11base; A0001
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 28654
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 504
Feature /codon: aca -> gca; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 42
Feature /change: T -> A
Feature /domain: SH2_1
Diagnosis Noonan syndrome
Comment atrioventricular septal defect
//
ID PTPN11_T42A(2); standard; MUTATION; SH2_1
Accession A0186
Systematic name g.28654A>G, c.124A>G, r.124a>g, p.Thr42Ala
Description A point mutation in the exon 2 leading to an amino acid
Description change in the SH2_1 domain
Date 15-Feb-2008 (Rel. 1, Created)
Date 15-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12960218
RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C.,
RefAuthors Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V.,
RefAuthors Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle Correlation between PTPN11 gene mutations and congenital
RefTitle heart defects in noonan and LEOPARD syndromes.
RefLoc J Med Genet:704-708 (2003)
DB CrossRef PTPN11base; A0002
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 28654
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 504
Feature /codon: aca -> gca; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 42
Feature /change: T -> A
Feature /domain: SH2_1
Diagnosis Noonan syndrome
Comment hypertrophic cardiomyopathy
//
ID PTPN11_T42A(3); standard; MUTATION; SH2_1
Accession A0187
Systematic name g.28654A>G, c.124A>G, r.124a>g, p.Thr42Ala
Description A point mutation in the exon 2 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0003
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 28654
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 504
Feature /codon: aca -> gca; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 42
Feature /change: T -> A
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_T42A(4); standard; MUTATION; SH2_1
Accession A0188
Systematic name g.28654A>G, c.124A>G, r.124a>g, p.Thr42Ala
Description A point mutation in the exon 2 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0004
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 28654
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 504
Feature /codon: aca -> gca; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 42
Feature /change: T -> A
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_T42A(5); standard; MUTATION; SH2_1
Accession A0189
Systematic name g.28654A>G, c.124A>G, r.124a>g, p.Thr42Ala
Description A point mutation in the exon 2 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0005
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 28654
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 504
Feature /codon: aca -> gca; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 42
Feature /change: T -> A
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_N58D(1); standard; MUTATION; SH2_1
Accession A0190
Systematic name g.32621A>G, c.172A>G, r.172a>g, p.Asn58Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0006
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32621
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 552
Feature /codon: aac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 58
Feature /change: N -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_N58K(1); standard; MUTATION; SH2_1
Accession A0191
Systematic name g.32623C>G, c.174C>G, r.174c>g, p.Asn58Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet:201-206 (2003)
DB CrossRef PTPN11base; A0007
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32623
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 554
Feature /codon: aac -> aag; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 58
Feature /change: N -> K
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_N58Y(1); standard; MUTATION; SH2_1
Accession A0192
Systematic name g.32621A>T, c.172A>T, r.172a>u, p.Asn58Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood:307-313 (2004)
DB CrossRef PTPN11base; A0008
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32621
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 552
Feature /codon: aac -> tac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 58
Feature /change: N -> Y
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_G60A(1); standard; MUTATION; SH2_1
Accession A0193
Systematic name g.32628G>C, c.179G>C, r.179g>c, p.Gly60Ala
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0010
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> A
Feature /domain: SH2_1
//
ID PTPN11_G60A(2); standard; MUTATION; SH2_1
Accession A0194
Systematic name g.32628G>C, c.179G>C, r.179g>c, p.Gly60Ala
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0011
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> A
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_G60A(3); standard; MUTATION; SH2_1
Accession A0195
Systematic name g.32628G>C, c.179G>C, r.179g>c, p.Gly60Ala
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16643459
RefAuthors Roti, G., La Starza, R., Ballanti, S., Crescenzi, B.,
RefAuthors Romoli, S., Foa, R., Tartaglia, M., Aversa, F., Fabrizio
RefAuthors Martelli, M., Mecucci, C.
RefTitle Acute lymphoblastic leukaemia in noonan syndrome.
RefLoc Br J Haematol:448-450 (2006)
DB CrossRef PTPN11base; A0012
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> A
Feature /domain: SH2_1
//
ID PTPN11_G60R(1); standard; MUTATION; SH2_1
Accession A0196
Systematic name g.32627G>C, c.178G>C, r.178g>c, p.Gly60Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0024
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32627
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 558
Feature /codon: ggt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> R
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_G60V(1); standard; MUTATION; SH2_1
Accession A0197
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0013
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> V
Feature /domain: SH2_1
Diagnosis MDS
//
ID PTPN11_G60V(2); standard; MUTATION; SH2_1
Accession A0198
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0014
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_G60V(3); standard; MUTATION; SH2_1
Accession A0199
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0015
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_G60V(4); standard; MUTATION; SH2_1
Accession A0200
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0016
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_G60V(5); standard; MUTATION; SH2_1
Accession A0201
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0017
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_G60V(6); standard; MUTATION; SH2_1
Accession A0202
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0018
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_G60V(7); standard; MUTATION; SH2_1
Accession A0203
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0019
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_G60V(8); standard; MUTATION; SH2_1
Accession A0204
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0020
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_G60V(9); standard; MUTATION; SH2_1
Accession A0205
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0021
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_G60V(10); standard; MUTATION; SH2_1
Accession A0206
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0022
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_G60V(11); standard; MUTATION; SH2_1
Accession A0207
Systematic name g.32628G>T, c.179G>T, r.179g>u, p.Gly60Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16533526
RefAuthors Yamamoto, T., Isomura, M., Xu, Y., Liang, J., Yagasaki,
RefAuthors H., Kamachi, Y., Kudo, K., Kiyoi, H., Naoe, T., Kojma, S.
RefTitle PTPN11, RAS and FLT3 mutations in childhood acute
RefTitle lymphoblastic leukemia.
RefLoc Leuk Res:1085-1089 (2006)
DB CrossRef PTPN11base; A0023
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32628
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 559
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 60
Feature /change: G -> V
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia
//
ID PTPN11_D61G(1); standard; MUTATION; SH2_1
Accession A0208
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0025
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_D61G(2); standard; MUTATION; SH2_1
Accession A0209
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0026
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_D61G(3); standard; MUTATION; SH2_1
Accession A0210
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11704759
RefAuthors Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G.,
RefAuthors Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A.
RefAuthors H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A.,
RefAuthors Kucherlapati, R. S., Gelb, B. D.
RefTitle Mutations in PTPN11, encoding the protein tyrosine
RefTitle phosphatase SHP-2, cause noonan syndrome.
RefLoc Nat Genet:465-468 (2001)
DB CrossRef PTPN11base; A0027
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_D61G(4); standard; MUTATION; SH2_1
Accession A0211
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12161469
RefAuthors Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato,
RefAuthors S., Matsuo, N., Kosaki, R., Nagai, T., Hasegawa, Y.,
RefAuthors Ogata, T.
RefTitle PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11)
RefTitle mutations in seven japanese patients with noonan syndrome.
RefLoc J Clin Endocrinol Metab:3529-3533 (2002)
DB CrossRef PTPN11base; A0028
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_D61G(5); standard; MUTATION; SH2_1
Accession A0212
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet:201-206 (2003)
DB CrossRef PTPN11base; A0029
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_D61G(6); standard; MUTATION; SH2_1
Accession A0213
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet:201-206 (2003)
DB CrossRef PTPN11base; A0030
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_D61G(7); standard; MUTATION; SH2_1
Accession A0214
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0031
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_D61G(8); standard; MUTATION; SH2_1
Accession A0215
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0032
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> G
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61G(9); standard; MUTATION; SH2_1
Accession A0216
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0033
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome / MPD
//
ID PTPN11_D61G(10); standard; MUTATION; SH2_1
Accession A0217
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0034
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome / MPD
//
ID PTPN11_D61G(11); standard; MUTATION; SH2_1
Accession A0218
Systematic name g.32631A>G, c.182A>G, r.182a>g, p.Asp61Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16533526
RefAuthors Yamamoto, T., Isomura, M., Xu, Y., Liang, J., Yagasaki,
RefAuthors H., Kamachi, Y., Kudo, K., Kiyoi, H., Naoe, T., Kojma, S.
RefTitle PTPN11, RAS and FLT3 mutations in childhood acute
RefTitle lymphoblastic leukemia.
RefLoc Leuk Res:1085-1089 (2006)
DB CrossRef PTPN11base; A0035
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> G
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia (ALL)
//
ID PTPN11_D61N(1); standard; MUTATION; SH2_1
Accession A0219
Systematic name g.32630G>A, c.181G>A, r.181g>a, p.Asp61Asn
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0059
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> aat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> N
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_D61N(2); standard; MUTATION; SH2_1
Accession A0220
Systematic name g.32630G>A, c.181G>A, r.181g>a, p.Asp61Asn
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood 103:2325-2331 (2004)
DB CrossRef PTPN11base; A0060
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> aat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> N
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61N(3); standard; MUTATION; SH2_1
Accession A0221
Systematic name g.32630G>A, c.181G>A, r.181g>a, p.Asp61Asn
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet 11:201-206 (2003)
DB CrossRef PTPN11base; A0061
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> aat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> N
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_D61V(1); standard; MUTATION; SH2_1
Accession A0222
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood:307-313 (2004)
DB CrossRef PTPN11base; A0036
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> V
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_D61V(2); standard; MUTATION; SH2_1
Accession A0223
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0037
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61V(3); standard; MUTATION; SH2_1
Accession A0224
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0038
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> V
Feature /domain: SH2_1
Diagnosis MDS
//
ID PTPN11_D61V(4); standard; MUTATION; SH2_1
Accession A0225
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood 106:2183-2185 (2005)
DB CrossRef PTPN11base; A0039
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61V(5); standard; MUTATION; SH2_1
Accession A0226
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood 106:2183-2185 (2005)
DB CrossRef PTPN11base; A0040
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61V(6); standard; MUTATION; SH2_1
Accession A0227
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood 106:2183-2185 (2005)
DB CrossRef PTPN11base; A0041
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61V(7); standard; MUTATION; SH2_1
Accession A0228
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood 106:2183-2185 (2005)
DB CrossRef PTPN11base; A0042
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61V(8); standard; MUTATION; SH2_1
Accession A0229
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood 106:2183-2185 (2005)
DB CrossRef PTPN11base; A0043
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61V(9); standard; MUTATION; SH2_1
Accession A0230
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood 106:2183-2185 (2005)
DB CrossRef PTPN11base; A0044
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61V(10); standard; MUTATION; SH2_1
Accession A0231
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16518851
RefAuthors Chen, Y., Takita, J., Hiwatari, M., Igarashi, T., Hanada,
RefAuthors R., Kikuchi, A., Hongo, T., Taki, T., Ogasawara, M.,
RefAuthors Shimada, A., Hayashi, Y.
RefTitle Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma
RefTitle and pediatric hematological malignancies.
RefLoc Genes Chromosomes Cancer:583-591 (2006)
DB CrossRef PTPN11base; A0045
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> V
Feature /domain: SH2_1
Diagnosis MDS
//
ID PTPN11_D61V(11); standard; MUTATION; SH2_1
Accession A0232
Systematic name g.32631A>T, c.182A>T, r.182a>u, p.Asp61Val
Original code 63
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17910045
RefAuthors Paulsson, K., Horvat, A., Strombeck, B., Nilsson, F.,
RefAuthors Heldrup, J., Behrendtz, M., Forestier, E., Andersson, A.,
RefAuthors Fioretos, T., Johansson, B.
RefTitle Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and
RefTitle possibly mutually exclusive in high hyperdiploid childhood
RefTitle acute lymphoblastic leukemia.
RefLoc Genes Chromosomes Cancer:26-33 (2008)
DB CrossRef PTPN11base; A0238
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32631
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 562
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> V
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia
Age 11
Sex XY
//
ID PTPN11_D61Y(1); standard; MUTATION; SH2_1
Accession A0233
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0046
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia
//
ID PTPN11_D61Y(2); standard; MUTATION; SH2_1
Accession A0234
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet 34:148-150 (2003)
DB CrossRef PTPN11base; A0047
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61Y(3); standard; MUTATION; SH2_1
Accession A0235
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet 34:148-150 (2003)
DB CrossRef PTPN11base; A0048
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61Y(4); standard; MUTATION; SH2_1
Accession A0236
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet 34:148-150 (2003)
DB CrossRef PTPN11base; A0049
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61Y(5); standard; MUTATION; SH2_1
Accession A0237
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet 34:148-150 (2003)
DB CrossRef PTPN11base; A0050
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61Y(6); standard; MUTATION; SH2_1
Accession A0238
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet 34:148-150 (2003)
DB CrossRef PTPN11base; A0051
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61Y(7); standard; MUTATION; SH2_1
Accession A0239
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0052
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61Y(8); standard; MUTATION; SH2_1
Accession A0240
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood 106:2183-2185 (2005)
DB CrossRef PTPN11base; A0053
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61Y(9); standard; MUTATION; SH2_1
Accession A0241
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood 106:2183-2185 (2005)
DB CrossRef PTPN11base; A0054
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61Y(10); standard; MUTATION; SH2_1
Accession A0242
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood 106:2183-2185 (2005)
DB CrossRef PTPN11base; A0055
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61Y(11); standard; MUTATION; SH2_1
Accession A0243
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood 106:2183-2185 (2005)
DB CrossRef PTPN11base; A0056
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61Y(12); standard; MUTATION; SH2_1
Accession A0244
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood 106:2183-2185 (2005)
DB CrossRef PTPN11base; A0057
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61Y(13); standard; MUTATION; SH2_1
Accession A0245
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood 106:2183-2185 (2005)
DB CrossRef PTPN11base; A0058
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_D61Y(14); standard; MUTATION; SH2_1
Accession A0246
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Original code D172
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17353900
RefAuthors Flotho, C., Steinemann, D., Mullighan, C. G., Neale, G.,
RefAuthors Mayer, K., Kratz, C. P., Schlegelberger, B., Downing, J.
RefAuthors R., Niemeyer, C. M.
RefTitle Genome-wide single-nucleotide polymorphism analysis in
RefTitle juvenile myelomonocytic leukemia identifies uniparental
RefTitle disomy surrounding the NF1 locus in cases associated with
RefTitle neurofibromatosis but not in cases with mutant RAS or
RefTitle PTPN11.
RefLoc Oncogene:5816-5821 (2007)
DB CrossRef PTPN11base; A0228
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
Age 6.6
Sex XY
//
ID PTPN11_D61Y(15); standard; MUTATION; SH2_1
Accession A0247
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Original code D257
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17353900
RefAuthors Flotho, C., Steinemann, D., Mullighan, C. G., Neale, G.,
RefAuthors Mayer, K., Kratz, C. P., Schlegelberger, B., Downing, J.
RefAuthors R., Niemeyer, C. M.
RefTitle Genome-wide single-nucleotide polymorphism analysis in
RefTitle juvenile myelomonocytic leukemia identifies uniparental
RefTitle disomy surrounding the NF1 locus in cases associated with
RefTitle neurofibromatosis but not in cases with mutant RAS or
RefTitle PTPN11.
RefLoc Oncogene:5816-5821 (2007)
DB CrossRef PTPN11base; A0229
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
Age 0.2
Sex XX
//
ID PTPN11_D61Y(16); standard; MUTATION; SH2_1
Accession A0248
Systematic name g.32630G>T, c.181G>T, r.181g>u, p.Asp61Tyr
Original code D275
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17353900
RefAuthors Flotho, C., Steinemann, D., Mullighan, C. G., Neale, G.,
RefAuthors Mayer, K., Kratz, C. P., Schlegelberger, B., Downing, J.
RefAuthors R., Niemeyer, C. M.
RefTitle Genome-wide single-nucleotide polymorphism analysis in
RefTitle juvenile myelomonocytic leukemia identifies uniparental
RefTitle disomy surrounding the NF1 locus in cases associated with
RefTitle neurofibromatosis but not in cases with mutant RAS or
RefTitle PTPN11.
RefLoc Oncogene:5816-5821 (2007)
DB CrossRef PTPN11base; A0230
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32630
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 561
Feature /codon: gat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 61
Feature /change: D -> Y
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
Age 3.8
Sex XY
//
ID PTPN11_Y62D(1); standard; MUTATION; SH2_1
Accession A0249
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12960218
RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C.,
RefAuthors Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V.,
RefAuthors Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle Correlation between PTPN11 gene mutations and congenital
RefTitle heart defects in noonan and LEOPARD syndromes.
RefLoc J Med Genet 40:704-708 (2003)
DB CrossRef PTPN11base; A0062
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32633
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature /codon: tac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature /change: Y -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
Comment Symptoms: pulmonary valve stenosis; atrial septal defect
//
ID PTPN11_Y62D(2); standard; MUTATION; SH2_1
Accession A0250
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet 70:1555-1563 (2002)
DB CrossRef PTPN11base; A0063
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32633
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature /codon: tac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature /change: Y -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y62D(3); standard; MUTATION; SH2_1
Accession A0251
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet 70:1555-1563 (2002)
DB CrossRef PTPN11base; A0064
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32633
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature /codon: tac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature /change: Y -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y62D(4); standard; MUTATION; SH2_1
Accession A0252
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet 70:1555-1563 (2002)
DB CrossRef PTPN11base; A0065
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32633
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature /codon: tac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature /change: Y -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome / juvenile myelomonocytic leukemia
//
ID PTPN11_Y62D(5); standard; MUTATION; SH2_1
Accession A0253
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 16-Feb-2008 (Rel. 1, Created)
Date 16-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet 11:201-206 (2003)
DB CrossRef PTPN11base; A0066
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32633
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature /codon: tac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature /change: Y -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y62D(6); standard; MUTATION; SH2_1
Accession A0254
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12325025
RefAuthors Maheshwari, M., Belmont, J., Fernbach, S., Ho, T.,
RefAuthors Molinari, L., Yakub, I., Yu, F., Combes, A., Towbin, J.,
RefAuthors Craigen, W. J., Gibbs, R.
RefTitle PTPN11 mutations in noonan syndrome type I: detection of
RefTitle recurrent mutations in exons 3 and 13.
RefLoc Hum Mutat:298-304 (2002)
DB CrossRef PTPN11base; A0067
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32633
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature /codon: tac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature /change: Y -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y62D(7); standard; MUTATION; SH2_1
Accession A0255
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0068
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32633
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature /codon: tac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature /change: Y -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y62D(8); standard; MUTATION; SH2_1
Accession A0256
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0069
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32633
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature /codon: tac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature /change: Y -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y62D(9); standard; MUTATION; SH2_1
Accession A0257
Systematic name g.32633T>G, c.184T>G, r.184u>g, p.Tyr62Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0070
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32633
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 564
Feature /codon: tac -> gac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 62
Feature /change: Y -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(1); standard; MUTATION; SH2_1
Accession A0258
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12960218
RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C.,
RefAuthors Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V.,
RefAuthors Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle Correlation between PTPN11 gene mutations and congenital
RefTitle heart defects in noonan and LEOPARD syndromes.
RefLoc J Med Genet 40:704-708 (2003)
DB CrossRef PTPN11base; A0071
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
Comment Symptoms: atrioventricular septal defect
//
ID PTPN11_Y63C(2); standard; MUTATION; SH2_1
Accession A0259
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12960218
RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C.,
RefAuthors Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V.,
RefAuthors Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle Correlation between PTPN11 gene mutations and congenital
RefTitle heart defects in noonan and LEOPARD syndromes.
RefLoc J Med Genet 40:704-708 (2003)
DB CrossRef PTPN11base; A0072
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
Comment Symptoms: atrial septal defect
//
ID PTPN11_Y63C(3); standard; MUTATION; SH2_1
Accession A0260
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12960218
RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C.,
RefAuthors Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V.,
RefAuthors Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle Correlation between PTPN11 gene mutations and congenital
RefTitle heart defects in noonan and LEOPARD syndromes.
RefLoc J Med Genet 40:704-708 (2003)
DB CrossRef PTPN11base; A0073
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
Comment Symptoms: pulmonary valve stenosis (familial)
//
ID PTPN11_Y63C(4); standard; MUTATION; SH2_1
Accession A0261
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0074
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(5); standard; MUTATION; SH2_1
Accession A0262
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0075
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(6); standard; MUTATION; SH2_1
Accession A0263
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0076
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(7); standard; MUTATION; SH2_1
Accession A0264
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0077
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(8); standard; MUTATION; SH2_1
Accession A0265
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11704759
RefAuthors Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G.,
RefAuthors Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A.
RefAuthors H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A.,
RefAuthors Kucherlapati, R. S., Gelb, B. D.
RefTitle Mutations in PTPN11, encoding the protein tyrosine
RefTitle phosphatase SHP-2, cause noonan syndrome.
RefLoc Nat Genet:465-468 (2001)
DB CrossRef PTPN11base; A0078
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(9); standard; MUTATION; SH2_1
Accession A0266
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12161469
RefAuthors Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato,
RefAuthors S., Matsuo, N., Kosaki, R., Nagai, T., Hasegawa, Y.,
RefAuthors Ogata, T.
RefTitle PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11)
RefTitle mutations in seven japanese patients with noonan syndrome.
RefLoc J Clin Endocrinol Metab:3529-3533 (2002)
DB CrossRef PTPN11base; A0079
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(10); standard; MUTATION; SH2_1
Accession A0267
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12161469
RefAuthors Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato,
RefAuthors S., Matsuo, N., Kosaki, R., Nagai, T., Hasegawa, Y.,
RefAuthors Ogata, T.
RefTitle PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11)
RefTitle mutations in seven japanese patients with noonan syndrome.
RefLoc J Clin Endocrinol Metab:3529-3533 (2002)
DB CrossRef PTPN11base; A0080
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(11); standard; MUTATION; SH2_1
Accession A0268
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet:201-206 (2003)
DB CrossRef PTPN11base; A0081
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(12); standard; MUTATION; SH2_1
Accession A0269
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet:201-206 (2003)
DB CrossRef PTPN11base; A0082
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(13); standard; MUTATION; SH2_1
Accession A0270
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet:201-206 (2003)
DB CrossRef PTPN11base; A0083
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(14); standard; MUTATION; SH2_1
Accession A0271
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet:201-206 (2003)
DB CrossRef PTPN11base; A0084
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(15); standard; MUTATION; SH2_1
Accession A0272
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12325025
RefAuthors Maheshwari, M., Belmont, J., Fernbach, S., Ho, T.,
RefAuthors Molinari, L., Yakub, I., Yu, F., Combes, A., Towbin, J.,
RefAuthors Craigen, W. J., Gibbs, R.
RefTitle PTPN11 mutations in noonan syndrome type I: detection of
RefTitle recurrent mutations in exons 3 and 13.
RefLoc Hum Mutat:298-304 (2002)
DB CrossRef PTPN11base; A0085
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(16); standard; MUTATION; SH2_1
Accession A0273
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12325025
RefAuthors Maheshwari, M., Belmont, J., Fernbach, S., Ho, T.,
RefAuthors Molinari, L., Yakub, I., Yu, F., Combes, A., Towbin, J.,
RefAuthors Craigen, W. J., Gibbs, R.
RefTitle PTPN11 mutations in noonan syndrome type I: detection of
RefTitle recurrent mutations in exons 3 and 13.
RefLoc Hum Mutat:298-304 (2002)
DB CrossRef PTPN11base; A0086
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(17); standard; MUTATION; SH2_1
Accession A0274
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0087
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(18); standard; MUTATION; SH2_1
Accession A0275
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0088
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Y63C(19); standard; MUTATION; SH2_1
Accession A0276
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17497712
RefAuthors Becker, K., Hughes, H., Howard, K., Armstrong, M.,
RefAuthors Roberts, D., Lazda, E. J., Short, J. P., Shaw, A., Patton,
RefAuthors M. A., Tartaglia, M.
RefTitle Early fetal death associated with compound heterozygosity
RefTitle for noonan syndrome-causative PTPN11 mutations.
RefLoc Am J Med Genet A:1249-1252 (2007)
DB CrossRef PTPN11base; A0233
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
Sex XY
Relative Description of pedigree:A0234: daughter
//
ID PTPN11_Y63C(20); standard; MUTATION; SH2_1
Accession A0277
Systematic name g.32637A>G, c.188A>G, r.188a>g, p.Tyr63Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17497712
RefAuthors Becker, K., Hughes, H., Howard, K., Armstrong, M.,
RefAuthors Roberts, D., Lazda, E. J., Short, J. P., Shaw, A., Patton,
RefAuthors M. A., Tartaglia, M.
RefTitle Early fetal death associated with compound heterozygosity
RefTitle for noonan syndrome-causative PTPN11 mutations.
RefLoc Am J Med Genet A:1249-1252 (2007)
DB CrossRef PTPN11base; A0234
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32637
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 568
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 63
Feature /change: Y -> C
Feature /domain: SH2_1
Diagnosis Noonan syndrome
Sex XX
Relative Description of pedigree:A0233: father
Comment The patient was a fetus, demised at the age of 12 weeks.
Comment The DNA analysis from autopsy fetal muscle confirmed
Comment compound heterozygosity for the parental Y63C and N308S
Comment mutations.
//
ID PTPN11_E69K(1); standard; MUTATION; SH2_1
Accession A0278
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0089
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32654
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_E69K(2); standard; MUTATION; SH2_1
Accession A0279
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0090
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32654
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_E69K(3); standard; MUTATION; SH2_1
Accession A0280
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0091
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32654
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E69K(4); standard; MUTATION; SH2_1
Accession A0281
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0092
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32654
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E69K(5); standard; MUTATION; SH2_1
Accession A0282
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0093
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32654
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E69K(6); standard; MUTATION; SH2_1
Accession A0283
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0094
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32654
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis MDS
//
ID PTPN11_E69K(7); standard; MUTATION; SH2_1
Accession A0284
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0095
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32654
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E69K(8); standard; MUTATION; SH2_1
Accession A0285
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16533526
RefAuthors Yamamoto, T., Isomura, M., Xu, Y., Liang, J., Yagasaki,
RefAuthors H., Kamachi, Y., Kudo, K., Kiyoi, H., Naoe, T., Kojma, S.
RefTitle PTPN11, RAS and FLT3 mutations in childhood acute
RefTitle lymphoblastic leukemia.
RefLoc Leuk Res:1085-1089 (2006)
DB CrossRef PTPN11base; A0096
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32654
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia (ALL)
//
ID PTPN11_E69K(9); standard; MUTATION; SH2_1
Accession A0286
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Original code 8
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17910045
RefAuthors Paulsson, K., Horvat, A., Strombeck, B., Nilsson, F.,
RefAuthors Heldrup, J., Behrendtz, M., Forestier, E., Andersson, A.,
RefAuthors Fioretos, T., Johansson, B.
RefTitle Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and
RefTitle possibly mutually exclusive in high hyperdiploid childhood
RefTitle acute lymphoblastic leukemia.
RefLoc Genes Chromosomes Cancer:26-33 (2008)
DB CrossRef PTPN11base; A0235
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32654
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia
Age 3
Sex XX
//
ID PTPN11_E69K(10); standard; MUTATION; SH2_1
Accession A0287
Systematic name g.32654G>A, c.205G>A, r.205g>a, p.Glu69Lys
Original code 860
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 19-Feb-2008 (Rel. 1, Created)
Date 19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17972951
RefAuthors Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J.
RefAuthors L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y.,
RefAuthors Liu, M. C., Tien, H. F.
RefTitle Characterization of acute myeloid leukemia with PTPN11
RefTitle mutation: the mutation is closely associated with NPM1
RefTitle mutation but inversely related to FLT3/ITD.
RefLoc Leukemia (2007)
DB CrossRef PTPN11base; A0251
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32654
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute myeloid leukemia
Age 50
Sex XX
//
ID PTPN11_E69Q(1); standard; MUTATION; SH2_1
Accession A0288
Systematic name g.32654G>C, c.205G>C, r.205g>c, p.Glu69Gln
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet:201-206 (2003)
DB CrossRef PTPN11base; A0097
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32654
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature /codon: gag -> cag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature /change: E -> Q
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_E69Q(2); standard; MUTATION; SH2_1
Accession A0289
Systematic name g.32654G>C, c.205G>C, r.205g>c, p.Glu69Gln
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0098
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32654
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 585
Feature /codon: gag -> cag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 69
Feature /change: E -> Q
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_F71K(1); standard; MUTATION; SH2_1
Accession A0290
Systematic name g., c., r., p.Phe71Lys
Description A complex mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0099
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: SH2base: PTPN11_DNA: 32660..32662
Feature /change: ttt -> aaa
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834:
Feature /loc: 591..593
Feature /codon: ttt -> aaa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 71
Feature /change: F -> K
Feature /domain: SH2_1
Diagnosis AML
//
ID PTPN11_F71L(1); standard; MUTATION; SH2_1
Accession A0291
Systematic name g.32662T>A, c.213T>A, r.213u>a, p.Phe71Leu
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0100
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32662
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 593
Feature /codon: ttt -> tta; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 71
Feature /change: F -> L
Feature /domain: SH2_1
Diagnosis MDS
//
ID PTPN11_F71L(2); standard; MUTATION; SH2_1
Accession A0292
Systematic name g.32660T>C, c.211T>C, r.211u>c, p.Phe71Leu
Original code 859
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17972951
RefAuthors Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J.
RefAuthors L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y.,
RefAuthors Liu, M. C., Tien, H. F.
RefTitle Characterization of acute myeloid leukemia with PTPN11
RefTitle mutation: the mutation is closely associated with NPM1
RefTitle mutation but inversely related to FLT3/ITD.
RefLoc Leukemia (2007)
DB CrossRef PTPN11base; A0240
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32660
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 591
Feature /codon: ttt -> ctt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 71
Feature /change: F -> L
Feature /domain: SH2_1
Diagnosis Acute myeloid leukemia
Age 71
Sex XY
//
ID PTPN11_A72D(1); standard; MUTATION; SH2_1
Accession A0293
Systematic name g.32664C>A, c.215C>A, r.215c>a, p.Ala72Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0106
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> D
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - Pre-B
//
ID PTPN11_A72D(2); standard; MUTATION; SH2_1
Accession A0294
Systematic name g.32664C>A, c.215C>A, r.215c>a, p.Ala72Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16518851
RefAuthors Chen, Y., Takita, J., Hiwatari, M., Igarashi, T., Hanada,
RefAuthors R., Kikuchi, A., Hongo, T., Taki, T., Ogasawara, M.,
RefAuthors Shimada, A., Hayashi, Y.
RefTitle Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma
RefTitle and pediatric hematological malignancies.
RefLoc Genes Chromosomes Cancer:583-591 (2006)
DB CrossRef PTPN11base; A0107
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> D
Feature /domain: SH2_1
Diagnosis Acute myelogenous leukemia (AML)
//
ID PTPN11_A72G(1); standard; MUTATION; SH2_1
Accession A0295
Systematic name g.32664C>G, c.215C>G, r.215c>g, p.Ala72Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12960218
RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C.,
RefAuthors Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V.,
RefAuthors Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle Correlation between PTPN11 gene mutations and congenital
RefTitle heart defects in noonan and LEOPARD syndromes.
RefLoc J Med Genet 40:704-708 (2003)
DB CrossRef PTPN11base; A0101
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome
Comment Symptoms: hypertrophic cardiomyopathy; mitral valve anomaly
//
ID PTPN11_A72G(2); standard; MUTATION; SH2_1
Accession A0296
Systematic name g.32664C>G, c.215C>G, r.215c>g, p.Ala72Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0102
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_A72G(3); standard; MUTATION; SH2_1
Accession A0297
Systematic name g.32664C>G, c.215C>G, r.215c>g, p.Ala72Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11704759
RefAuthors Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G.,
RefAuthors Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A.
RefAuthors H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A.,
RefAuthors Kucherlapati, R. S., Gelb, B. D.
RefTitle Mutations in PTPN11, encoding the protein tyrosine
RefTitle phosphatase SHP-2, cause noonan syndrome.
RefLoc Nat Genet:465-468 (2001)
DB CrossRef PTPN11base; A0103
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_A72G(4); standard; MUTATION; SH2_1
Accession A0298
Systematic name g.32664C>G, c.215C>G, r.215c>g, p.Ala72Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0104
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_A72G(5); standard; MUTATION; SH2_1
Accession A0299
Systematic name g.32664C>G, c.215C>G, r.215c>g, p.Ala72Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan
RefTitle syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0105
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> G
Feature /domain: SH2_1
Diagnosis Noonan syndrome - MPD
//
ID PTPN11_A72S(1); standard; MUTATION; SH2_1
Accession A0300
Systematic name g.32663G>T, c.214G>T, r.214g>u, p.Ala72Ser
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11704759
RefAuthors Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G.,
RefAuthors Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A.
RefAuthors H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A.,
RefAuthors Kucherlapati, R. S., Gelb, B. D.
RefTitle Mutations in PTPN11, encoding the protein tyrosine
RefTitle phosphatase SHP-2, cause noonan syndrome.
RefLoc Nat Genet:465-468 (2001)
DB CrossRef PTPN11base; A0108
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> tcc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> S
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_A72S(2); standard; MUTATION; SH2_1
Accession A0301
Systematic name g.32663G>T, c.214G>T, r.214g>u, p.Ala72Ser
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12161469
RefAuthors Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato,
RefAuthors S., Matsuo, N., Kosaki, R., Nagai, T., Hasegawa, Y.,
RefAuthors Ogata, T.
RefTitle PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11)
RefTitle mutations in seven japanese patients with noonan syndrome.
RefLoc J Clin Endocrinol Metab:3529-3533 (2002)
DB CrossRef PTPN11base; A0109
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> tcc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> S
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_A72T(1); standard; MUTATION; SH2_1
Accession A0302
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0110
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_A72T(2); standard; MUTATION; SH2_1
Accession A0303
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0111
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72T(3); standard; MUTATION; SH2_1
Accession A0304
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0112
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72T(4); standard; MUTATION; SH2_1
Accession A0305
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0113
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72T(5); standard; MUTATION; SH2_1
Accession A0306
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0114
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72T(6); standard; MUTATION; SH2_1
Accession A0307
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0115
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72T(7); standard; MUTATION; SH2_1
Accession A0308
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0116
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72T(8); standard; MUTATION; SH2_1
Accession A0309
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0117
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72T(9); standard; MUTATION; SH2_1
Accession A0310
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0118
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72T(10); standard; MUTATION; SH2_1
Accession A0311
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0119
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72T(11); standard; MUTATION; SH2_1
Accession A0312
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16518851
RefAuthors Chen, Y., Takita, J., Hiwatari, M., Igarashi, T., Hanada,
RefAuthors R., Kikuchi, A., Hongo, T., Taki, T., Ogasawara, M.,
RefAuthors Shimada, A., Hayashi, Y.
RefTitle Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma
RefTitle and pediatric hematological malignancies.
RefLoc Genes Chromosomes Cancer:583-591 (2006)
DB CrossRef PTPN11base; A0120
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Rhabdomyosarcoma
//
ID PTPN11_A72T(12); standard; MUTATION; SH2_1
Accession A0313
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Original code 145
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17330262
RefAuthors Christiansen, D. H., Desta, F., Andersen, M. K., Pedersen-
RefAuthors Bjergaard, J.
RefTitle Mutations of the PTPN11 gene in therapy-related MDS and
RefTitle AML with rare balanced chromosome translocations.
RefLoc Genes Chromosomes Cancer:517-521 (2007)
DB CrossRef PTPN11base; A0224
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis MDS/AML
Age 57
Sex XX
Comment Primary tumor: Breast cancer, stage II
//
ID PTPN11_A72T(13); standard; MUTATION; SH2_1
Accession A0314
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Original code 170
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17330262
RefAuthors Christiansen, D. H., Desta, F., Andersen, M. K., Pedersen-
RefAuthors Bjergaard, J.
RefTitle Mutations of the PTPN11 gene in therapy-related MDS and
RefTitle AML with rare balanced chromosome translocations.
RefLoc Genes Chromosomes Cancer:517-521 (2007)
DB CrossRef PTPN11base; A0225
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis AML
Age 68
Sex XY
Comment Primary tumor: Multiple myeloma
//
ID PTPN11_A72T(14); standard; MUTATION; SH2_1
Accession A0315
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Original code D124
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17353900
RefAuthors Flotho, C., Steinemann, D., Mullighan, C. G., Neale, G.,
RefAuthors Mayer, K., Kratz, C. P., Schlegelberger, B., Downing, J.
RefAuthors R., Niemeyer, C. M.
RefTitle Genome-wide single-nucleotide polymorphism analysis in
RefTitle juvenile myelomonocytic leukemia identifies uniparental
RefTitle disomy surrounding the NF1 locus in cases associated with
RefTitle neurofibromatosis but not in cases with mutant RAS or
RefTitle PTPN11.
RefLoc Oncogene:5816-5821 (2007)
DB CrossRef PTPN11base; A0227
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
Age 5
Sex XY
//
ID PTPN11_A72T(15); standard; MUTATION; SH2_1
Accession A0316
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Original code 411
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 19-Feb-2008 (Rel. 1, Created)
Date 19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17972951
RefAuthors Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J.
RefAuthors L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y.,
RefAuthors Liu, M. C., Tien, H. F.
RefTitle Characterization of acute myeloid leukemia with PTPN11
RefTitle mutation: the mutation is closely associated with NPM1
RefTitle mutation but inversely related to FLT3/ITD.
RefLoc Leukemia (2007)
DB CrossRef PTPN11base; A0242
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Acute myeloid leukemia
Age 39
Sex XY
//
ID PTPN11_A72T(16); standard; MUTATION; SH2_1
Accession A0317
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Original code 474
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 19-Feb-2008 (Rel. 1, Created)
Date 19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17972951
RefAuthors Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J.
RefAuthors L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y.,
RefAuthors Liu, M. C., Tien, H. F.
RefTitle Characterization of acute myeloid leukemia with PTPN11
RefTitle mutation: the mutation is closely associated with NPM1
RefTitle mutation but inversely related to FLT3/ITD.
RefLoc Leukemia (2007)
DB CrossRef PTPN11base; A0244
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Acute myeloid leukemia
Age 47
Sex XY
//
ID PTPN11_A72T(17); standard; MUTATION; SH2_1
Accession A0318
Systematic name g.32663G>A, c.214G>A, r.214g>a, p.Ala72Thr
Original code 791
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 19-Feb-2008 (Rel. 1, Created)
Date 19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17972951
RefAuthors Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J.
RefAuthors L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y.,
RefAuthors Liu, M. C., Tien, H. F.
RefTitle Characterization of acute myeloid leukemia with PTPN11
RefTitle mutation: the mutation is closely associated with NPM1
RefTitle mutation but inversely related to FLT3/ITD.
RefLoc Leukemia (2007)
DB CrossRef PTPN11base; A0249
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32663
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 594
Feature /codon: gcc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> T
Feature /domain: SH2_1
Diagnosis Acute myeloid leukemia
Age 52
Sex XY
//
ID PTPN11_A72V(1); standard; MUTATION; SH2_1
Accession A0319
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0121
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_A72V(2); standard; MUTATION; SH2_1
Accession A0320
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0122
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_A72V(3); standard; MUTATION; SH2_1
Accession A0321
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0123
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_A72V(4); standard; MUTATION; SH2_1
Accession A0322
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0124
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_A72V(5); standard; MUTATION; SH2_1
Accession A0323
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0125
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_A72V(6); standard; MUTATION; SH2_1
Accession A0324
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0126
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72V(7); standard; MUTATION; SH2_1
Accession A0325
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0127
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72V(8); standard; MUTATION; SH2_1
Accession A0326
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0128
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72V(9); standard; MUTATION; SH2_1
Accession A0327
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0129
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72V(10); standard; MUTATION; SH2_1
Accession A0328
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0130
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72V(11); standard; MUTATION; SH2_1
Accession A0329
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0131
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72V(12); standard; MUTATION; SH2_1
Accession A0330
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0132
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_A72V(13); standard; MUTATION; SH2_1
Accession A0331
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16518851
RefAuthors Chen, Y., Takita, J., Hiwatari, M., Igarashi, T., Hanada,
RefAuthors R., Kikuchi, A., Hongo, T., Taki, T., Ogasawara, M.,
RefAuthors Shimada, A., Hayashi, Y.
RefTitle Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma
RefTitle and pediatric hematological malignancies.
RefLoc Genes Chromosomes Cancer:583-591 (2006)
DB CrossRef PTPN11base; A0133
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis AML
//
ID PTPN11_A72V(14); standard; MUTATION; SH2_1
Accession A0332
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Original code D368
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17353900
RefAuthors Flotho, C., Steinemann, D., Mullighan, C. G., Neale, G.,
RefAuthors Mayer, K., Kratz, C. P., Schlegelberger, B., Downing, J.
RefAuthors R., Niemeyer, C. M.
RefTitle Genome-wide single-nucleotide polymorphism analysis in
RefTitle juvenile myelomonocytic leukemia identifies uniparental
RefTitle disomy surrounding the NF1 locus in cases associated with
RefTitle neurofibromatosis but not in cases with mutant RAS or
RefTitle PTPN11.
RefLoc Oncogene:5816-5821 (2007)
DB CrossRef PTPN11base; A0231
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
Age 0.6
Sex XY
//
ID PTPN11_A72V(15); standard; MUTATION; SH2_1
Accession A0333
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Original code 45
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17910045
RefAuthors Paulsson, K., Horvat, A., Strombeck, B., Nilsson, F.,
RefAuthors Heldrup, J., Behrendtz, M., Forestier, E., Andersson, A.,
RefAuthors Fioretos, T., Johansson, B.
RefTitle Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and
RefTitle possibly mutually exclusive in high hyperdiploid childhood
RefTitle acute lymphoblastic leukemia.
RefLoc Genes Chromosomes Cancer:26-33 (2008)
DB CrossRef PTPN11base; A0237
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia
Age 5
Sex XY
//
ID PTPN11_A72V(16); standard; MUTATION; SH2_1
Accession A0334
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Original code 709
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 19-Feb-2008 (Rel. 1, Created)
Date 19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17972951
RefAuthors Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J.
RefAuthors L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y.,
RefAuthors Liu, M. C., Tien, H. F.
RefTitle Characterization of acute myeloid leukemia with PTPN11
RefTitle mutation: the mutation is closely associated with NPM1
RefTitle mutation but inversely related to FLT3/ITD.
RefLoc Leukemia (2007)
DB CrossRef PTPN11base; A0247
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Acute myeloid leukemia
Age 72
Sex XY
//
ID PTPN11_A72V(17); standard; MUTATION; SH2_1
Accession A0335
Systematic name g.32664C>T, c.215C>T, r.215c>u, p.Ala72Val
Original code 811
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 19-Feb-2008 (Rel. 1, Created)
Date 19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17972951
RefAuthors Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J.
RefAuthors L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y.,
RefAuthors Liu, M. C., Tien, H. F.
RefTitle Characterization of acute myeloid leukemia with PTPN11
RefTitle mutation: the mutation is closely associated with NPM1
RefTitle mutation but inversely related to FLT3/ITD.
RefLoc Leukemia (2007)
DB CrossRef PTPN11base; A0248
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32664
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 595
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 72
Feature /change: A -> V
Feature /domain: SH2_1
Diagnosis Acute myeloid leukemia
Age 64
Sex XY
//
ID PTPN11_T73I(1); standard; MUTATION; SH2_1
Accession A0336
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0134
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_T73I(2); standard; MUTATION; SH2_1
Accession A0337
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0135
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome / juvenile myelomonocytic leukemia
//
ID PTPN11_T73I(3); standard; MUTATION; SH2_1
Accession A0338
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0136
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome / juvenile myelomonocytic leukemia
//
ID PTPN11_T73I(4); standard; MUTATION; SH2_1
Accession A0339
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0137
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome / juvenile myelomonocytic leukemia
//
ID PTPN11_T73I(5); standard; MUTATION; SH2_1
Accession A0340
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0138
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome / juvenile myelomonocytic leukemia
//
ID PTPN11_T73I(6); standard; MUTATION; SH2_1
Accession A0341
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0139
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Growth retardation/pulmonic stenosis/juvenile
Diagnosis myelomonocytic leukemia
//
ID PTPN11_T73I(7); standard; MUTATION; SH2_1
Accession A0342
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0140
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome / juvenile myelomonocytic leukemia
//
ID PTPN11_T73I(8); standard; MUTATION; SH2_1
Accession A0343
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12161469
RefAuthors Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato,
RefAuthors S., Matsuo, N., Kosaki, R., Nagai, T., Hasegawa, Y.,
RefAuthors Ogata, T.
RefTitle PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11)
RefTitle mutations in seven japanese patients with noonan syndrome.
RefLoc J Clin Endocrinol Metab:3529-3533 (2002)
DB CrossRef PTPN11base; A0141
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_T73I(9); standard; MUTATION; SH2_1
Accession A0344
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet:201-206 (2003)
DB CrossRef PTPN11base; A0142
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_T73I(10); standard; MUTATION; SH2_1
Accession A0345
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0143
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_T73I(11); standard; MUTATION; SH2_1
Accession A0346
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0144
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_T73I(12); standard; MUTATION; SH2_1
Accession A0347
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0145
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_T73I(13); standard; MUTATION; SH2_1
Accession A0348
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan
RefTitle syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0146
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome / MPD
//
ID PTPN11_T73I(14); standard; MUTATION; SH2_1
Accession A0349
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan
RefTitle syndrome/myeloproliferative disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0147
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Noonan syndrome / MPD
//
ID PTPN11_T73I(15); standard; MUTATION; SH2_1
Accession A0350
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Original code 31
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17910045
RefAuthors Paulsson, K., Horvat, A., Strombeck, B., Nilsson, F.,
RefAuthors Heldrup, J., Behrendtz, M., Forestier, E., Andersson, A.,
RefAuthors Fioretos, T., Johansson, B.
RefTitle Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and
RefTitle possibly mutually exclusive in high hyperdiploid childhood
RefTitle acute lymphoblastic leukemia.
RefLoc Genes Chromosomes Cancer:26-33 (2008)
DB CrossRef PTPN11base; A0236
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia
Age 3
Sex XY
//
ID PTPN11_T73I(16); standard; MUTATION; SH2_1
Accession A0351
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Original code 66
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17910045
RefAuthors Paulsson, K., Horvat, A., Strombeck, B., Nilsson, F.,
RefAuthors Heldrup, J., Behrendtz, M., Forestier, E., Andersson, A.,
RefAuthors Fioretos, T., Johansson, B.
RefTitle Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and
RefTitle possibly mutually exclusive in high hyperdiploid childhood
RefTitle acute lymphoblastic leukemia.
RefLoc Genes Chromosomes Cancer:26-33 (2008)
DB CrossRef PTPN11base; A0239
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia
Age 7
Sex XX
//
ID PTPN11_T73I(17); standard; MUTATION; SH2_1
Accession A0352
Systematic name g.32667C>T, c.218C>T, r.218c>u, p.Thr73Ile
Original code 449
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 19-Feb-2008 (Rel. 1, Created)
Date 19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17972951
RefAuthors Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J.
RefAuthors L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y.,
RefAuthors Liu, M. C., Tien, H. F.
RefTitle Characterization of acute myeloid leukemia with PTPN11
RefTitle mutation: the mutation is closely associated with NPM1
RefTitle mutation but inversely related to FLT3/ITD.
RefLoc Leukemia (2007)
DB CrossRef PTPN11base; A0243
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32667
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 598
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 73
Feature /change: T -> I
Feature /domain: SH2_1
Diagnosis Acute myeloid leukemia
Age 60
Sex XY
//
ID PTPN11_E76A(1); standard; MUTATION; SH2_1
Accession A0353
Systematic name g.32676A>C, c.227A>C, r.227a>c, p.Glu76Ala
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0150
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> gcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> A
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76A(2); standard; MUTATION; SH2_1
Accession A0354
Systematic name g.32676A>C, c.227A>C, r.227a>c, p.Glu76Ala
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0151
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> gcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> A
Feature /domain: SH2_1
Diagnosis MDS
//
ID PTPN11_E76A(3); standard; MUTATION; SH2_1
Accession A0355
Systematic name g.32676A>C, c.227A>C, r.227a>c, p.Glu76Ala
Original code 70
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17330262
RefAuthors Christiansen, D. H., Desta, F., Andersen, M. K., Pedersen-
RefAuthors Bjergaard, J.
RefTitle Mutations of the PTPN11 gene in therapy-related MDS and
RefTitle AML with rare balanced chromosome translocations.
RefLoc Genes Chromosomes Cancer:517-521 (2007)
DB CrossRef PTPN11base; A0223
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> gcg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> A
Feature /domain: SH2_1
Diagnosis MDS/AML
Age 60
Sex XY
Comment Primary tumor: Lung cancer, undifferentiated
//
ID PTPN11_E76D(1); standard; MUTATION; SH2_1
Accession A0356
Systematic name g.32677G>C, c.228G>C, r.228g>c, p.Glu76Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0152
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32677
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 608
Feature /codon: gag -> gac; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_E76D(2); standard; MUTATION; SH2_1
Accession A0357
Systematic name g.32677G>C, c.228G>C, r.228g>c, p.Glu76Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11704759
RefAuthors Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G.,
RefAuthors Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A.
RefAuthors H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A.,
RefAuthors Kucherlapati, R. S., Gelb, B. D.
RefTitle Mutations in PTPN11, encoding the protein tyrosine
RefTitle phosphatase SHP-2, cause noonan syndrome.
RefLoc Nat Genet:465-468 (2001)
DB CrossRef PTPN11base; A0153
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32677
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 608
Feature /codon: gag -> gac; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_E76D(3); standard; MUTATION; SH2_1
Accession A0358
Systematic name g.32677G>T, c.228G>T, r.228g>u, p.Glu76Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet:201-206 (2003)
DB CrossRef PTPN11base; A0154
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32677
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 608
Feature /codon: gag -> gat; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_E76D(4); standard; MUTATION; SH2_1
Accession A0359
Systematic name g.32677G>T, c.228G>T, r.228g>u, p.Glu76Asp
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0155
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32677
Feature /change: g -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 608
Feature /codon: gag -> gat; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> D
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_E76G(1); standard; MUTATION; SH2_1
Accession A0360
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0156
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Acute lymphoclastic leukemia - common
//
ID PTPN11_E76G(2); standard; MUTATION; SH2_1
Accession A0361
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0157
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Acute lymphoclastic leukemia - Bi-lineage
//
ID PTPN11_E76G(3); standard; MUTATION; SH2_1
Accession A0362
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0158
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76G(4); standard; MUTATION; SH2_1
Accession A0363
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0159
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76G(5); standard; MUTATION; SH2_1
Accession A0364
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0160
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76G(6); standard; MUTATION; SH2_1
Accession A0365
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0161
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76G(7); standard; MUTATION; SH2_1
Accession A0366
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0162
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76G(8); standard; MUTATION; SH2_1
Accession A0367
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0163
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76G(9); standard; MUTATION; SH2_1
Accession A0368
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0164
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76G(10); standard; MUTATION; SH2_1
Accession A0369
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0165
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76G(11); standard; MUTATION; SH2_1
Accession A0370
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0166
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76G(12); standard; MUTATION; SH2_1
Accession A0371
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0167
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76G(13); standard; MUTATION; SH2_1
Accession A0372
Systematic name g.32676A>G, c.227A>G, r.227a>g, p.Glu76Gly
Original code 735
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 19-Feb-2008 (Rel. 1, Created)
Date 19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17972951
RefAuthors Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J.
RefAuthors L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y.,
RefAuthors Liu, M. C., Tien, H. F.
RefTitle Characterization of acute myeloid leukemia with PTPN11
RefTitle mutation: the mutation is closely associated with NPM1
RefTitle mutation but inversely related to FLT3/ITD.
RefLoc Leukemia (2007)
DB CrossRef PTPN11base; A0250
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> G
Feature /domain: SH2_1
Diagnosis Acute myeloid leukemia
Age 64
Sex XY
//
ID PTPN11_E76K(1); standard; MUTATION; SH2_1
Accession A0373
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0168
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_E76K(2); standard; MUTATION; SH2_1
Accession A0374
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0169
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute lymphoclastic leukemia - common
//
ID PTPN11_E76K(3); standard; MUTATION; SH2_1
Accession A0375
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0170
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute lymphoclastic leukemia - common
//
ID PTPN11_E76K(4); standard; MUTATION; SH2_1
Accession A0376
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0171
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute lymphoclastic leukemia - Pre-B
//
ID PTPN11_E76K(5); standard; MUTATION; SH2_1
Accession A0377
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0172
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute monocytic leukemia
//
ID PTPN11_E76K(6); standard; MUTATION; SH2_1
Accession A0378
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0173
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(7); standard; MUTATION; SH2_1
Accession A0379
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0174
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(8); standard; MUTATION; SH2_1
Accession A0380
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0175
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(9); standard; MUTATION; SH2_1
Accession A0381
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0176
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(10); standard; MUTATION; SH2_1
Accession A0382
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0177
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(11); standard; MUTATION; SH2_1
Accession A0383
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0178
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(12); standard; MUTATION; SH2_1
Accession A0384
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0179
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(13); standard; MUTATION; SH2_1
Accession A0385
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0180
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(14); standard; MUTATION; SH2_1
Accession A0386
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0181
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(15); standard; MUTATION; SH2_1
Accession A0387
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0182
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(16); standard; MUTATION; SH2_1
Accession A0388
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0183
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(17); standard; MUTATION; SH2_1
Accession A0389
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0184
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(18); standard; MUTATION; SH2_1
Accession A0390
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0185
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(19); standard; MUTATION; SH2_1
Accession A0391
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0186
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(20); standard; MUTATION; SH2_1
Accession A0392
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0187
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(21); standard; MUTATION; SH2_1
Accession A0393
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0188
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(22); standard; MUTATION; SH2_1
Accession A0394
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0189
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(23); standard; MUTATION; SH2_1
Accession A0395
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0190
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(24); standard; MUTATION; SH2_1
Accession A0396
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0191
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(25); standard; MUTATION; SH2_1
Accession A0397
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0192
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(26); standard; MUTATION; SH2_1
Accession A0398
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0193
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(27); standard; MUTATION; SH2_1
Accession A0399
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0194
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(28); standard; MUTATION; SH2_1
Accession A0400
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0195
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(29); standard; MUTATION; SH2_1
Accession A0401
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0196
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(30); standard; MUTATION; SH2_1
Accession A0402
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0197
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(31); standard; MUTATION; SH2_1
Accession A0403
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0198
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(32); standard; MUTATION; SH2_1
Accession A0404
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0199
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(33); standard; MUTATION; SH2_1
Accession A0405
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15928039
RefAuthors Kratz, C. P., Niemeyer, C. M., Castleberry, R. P., Cetin,
RefAuthors M., Bergstrasser, E., Emanuel, P. D., Hasle, H., Kardos,
RefAuthors G., Klein, C., Kojima, S., Stary, J., Trebo, M., Zecca,
RefAuthors M., Gelb, B. D., Tartaglia, M., Loh, M. L.
RefTitle The mutational spectrum of PTPN11 in juvenile
RefTitle myelomonocytic leukemia and noonan syndrome/myeloproliferative
RefTitle disease.
RefLoc Blood:2183-2185 (2005)
DB CrossRef PTPN11base; A0200
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76K(34); standard; MUTATION; SH2_1
Accession A0406
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16533526
RefAuthors Yamamoto, T., Isomura, M., Xu, Y., Liang, J., Yagasaki,
RefAuthors H., Kamachi, Y., Kudo, K., Kiyoi, H., Naoe, T., Kojma, S.
RefTitle PTPN11, RAS and FLT3 mutations in childhood acute
RefTitle lymphoblastic leukemia.
RefLoc Leuk Res:1085-1089 (2006)
DB CrossRef PTPN11base; A0201
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia (ALL)
//
ID PTPN11_E76K(35); standard; MUTATION; SH2_1
Accession A0407
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Original code D119
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17353900
RefAuthors Flotho, C., Steinemann, D., Mullighan, C. G., Neale, G.,
RefAuthors Mayer, K., Kratz, C. P., Schlegelberger, B., Downing, J.
RefAuthors R., Niemeyer, C. M.
RefTitle Genome-wide single-nucleotide polymorphism analysis in
RefTitle juvenile myelomonocytic leukemia identifies uniparental
RefTitle disomy surrounding the NF1 locus in cases associated with
RefTitle neurofibromatosis but not in cases with mutant RAS or
RefTitle PTPN11.
RefLoc Oncogene:5816-5821 (2007)
DB CrossRef PTPN11base; A0226
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
Age 1.8
Sex XX
//
ID PTPN11_E76K(36); standard; MUTATION; SH2_1
Accession A0408
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Original code 696
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 19-Feb-2008 (Rel. 1, Created)
Date 19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17972951
RefAuthors Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J.
RefAuthors L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y.,
RefAuthors Liu, M. C., Tien, H. F.
RefTitle Characterization of acute myeloid leukemia with PTPN11
RefTitle mutation: the mutation is closely associated with NPM1
RefTitle mutation but inversely related to FLT3/ITD.
RefLoc Leukemia (2007)
DB CrossRef PTPN11base; A0245
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute myeloid leukemia
Age 78
Sex XY
//
ID PTPN11_E76K(37); standard; MUTATION; SH2_1
Accession A0409
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Original code 702
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 19-Feb-2008 (Rel. 1, Created)
Date 19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17972951
RefAuthors Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J.
RefAuthors L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y.,
RefAuthors Liu, M. C., Tien, H. F.
RefTitle Characterization of acute myeloid leukemia with PTPN11
RefTitle mutation: the mutation is closely associated with NPM1
RefTitle mutation but inversely related to FLT3/ITD.
RefLoc Leukemia (2007)
DB CrossRef PTPN11base; A0246
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Acute myeloid leukemia
Age 47
Sex XY
//
ID PTPN11_E76K(38); standard; MUTATION; SH2_1
Accession A0410
Systematic name g.32675G>A, c.226G>A, r.226g>a, p.Glu76Lys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 19-Feb-2008 (Rel. 1, Created)
Date 19-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16598312
RefAuthors Chen, C. Y., Lin, L. I., Tang, J. L., Tsay, W., Chang, H.
RefAuthors H., Yeh, Y. C., Huang, C. F., Chiou, R. J., Yao, M., Ko,
RefAuthors B. S., Chen, Y. C., Lin, K. H., Lin, D. T., Tien, H. F.
RefTitle Acquisition of JAK2, PTPN11, and RAS mutations during
RefTitle disease progression in primary myelodysplastic syndrome.
RefLoc Leukemia:1155-1158 (2006)
DB CrossRef PTPN11base; A0252
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> K
Feature /domain: SH2_1
Diagnosis Myelodysplastic syndrome
//
ID PTPN11_E76Q(1); standard; MUTATION; SH2_1
Accession A0411
Systematic name g.32675G>C, c.226G>C, r.226g>c, p.Glu76Gln
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0202
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> cag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> Q
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_E76Q(2); standard; MUTATION; SH2_1
Accession A0412
Systematic name g.32675G>C, c.226G>C, r.226g>c, p.Glu76Gln
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14982869
RefAuthors Tartaglia, M., Martinelli, S., Cazzaniga, G., Cordeddu,
RefAuthors V., Iavarone, I., Spinelli, M., Palmi, C., Carta, C.,
RefAuthors Pession, A., Aricx, M., Masera, G., Basso, G., Sorcini,
RefAuthors M., Gelb, B. D., Biondi, A.
RefTitle Genetic evidence for lineage-related and differentiation
RefTitle stage-related contribution of somatic PTPN11 mutations to
RefTitle leukemogenesis in childhood acute leukemia.
RefLoc Blood 104:307-313 (2004)
DB CrossRef PTPN11base; A0203
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> cag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> Q
Feature /domain: SH2_1
Diagnosis Acute lymphoblastic leukemia - common
//
ID PTPN11_E76Q(3); standard; MUTATION; SH2_1
Accession A0413
Systematic name g.32675G>C, c.226G>C, r.226g>c, p.Glu76Gln
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0204
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> cag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> Q
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E76Q(4); standard; MUTATION; SH2_1
Accession A0414
Systematic name g.32675G>C, c.226G>C, r.226g>c, p.Glu76Gln
Original code 815
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 20-Feb-2008 (Rel. 1, Created)
Date 20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17972951
RefAuthors Hou, H. A., Chou, W. C., Lin, L. I., Chen, C. Y., Tang, J.
RefAuthors L., Tseng, M. H., Huang, C. F., Chiou, R. J., Lee, F. Y.,
RefAuthors Liu, M. C., Tien, H. F.
RefTitle Characterization of acute myeloid leukemia with PTPN11
RefTitle mutation: the mutation is closely associated with NPM1
RefTitle mutation but inversely related to FLT3/ITD.
RefLoc Leukemia (2007)
DB CrossRef PTPN11base; A0253
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32675
Feature /change: g -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 606
Feature /codon: gag -> cag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> Q
Feature /domain: SH2_1
Diagnosis Acute myeloid leukemia
Age 75
Sex XX
Comment In the original publication, it is stated that the c.G226C
Comment mutation would lead into E76G at the protein level. We
Comment assume this was a typo, since c. G226C actually causes
Comment E76Q. This patient has also a L74M mutation (c. T220A).
//
ID PTPN11_E76V(1); standard; MUTATION; SH2_1
Accession A0415
Systematic name g.32676A>T, c.227A>T, r.227a>u, p.Glu76Val
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12717436
RefAuthors Tartaglia, M., Niemeyer, C. M., Fragale, A., Song, X.,
RefAuthors Buechner, J., Jung, A., Hahlen, K., Hasle, H., Licht, J.
RefAuthors D., Gelb, B. D.
RefTitle Somatic mutations in PTPN11 in juvenile myelomonocytic
RefTitle leukemia, myelodysplastic syndromes and acute myeloid
RefTitle leukemia.
RefLoc Nat Genet:148-150 (2003)
DB CrossRef PTPN11base; A0205
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32676
Feature /change: a -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 607
Feature /codon: gag -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 76
Feature /change: E -> V
Feature /domain: SH2_1
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_Q79P(1); standard; MUTATION; SH2_1
Accession A0416
Systematic name g.32685A>C, c.236A>C, r.236a>c, p.Gln79Pro
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12960218
RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C.,
RefAuthors Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V.,
RefAuthors Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle Correlation between PTPN11 gene mutations and congenital
RefTitle heart defects in noonan and LEOPARD syndromes.
RefLoc J Med Genet 40:704-708 (2003)
DB CrossRef PTPN11base; A0206
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> P
Feature /domain: SH2_1
Diagnosis Noonan syndrome
Comment Symptoms: pulmonary valve stenosis
//
ID PTPN11_Q79P(2); standard; MUTATION; SH2_1
Accession A0417
Systematic name g.32685A>C, c.236A>C, r.236a>c, p.Gln79Pro
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12960218
RefAuthors Sarkozy, A., Conti, E., Seripa, D., Digilio, M. C.,
RefAuthors Grifone, N., Tandoi, C., Fazio, V. M., Di Ciommo, V.,
RefAuthors Marino, B., Pizzuti, A., Dallapiccola, B.
RefTitle Correlation between PTPN11 gene mutations and congenital
RefTitle heart defects in noonan and LEOPARD syndromes.
RefLoc J Med Genet 40:704-708 (2003)
DB CrossRef PTPN11base; A0207
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> P
Feature /domain: SH2_1
Diagnosis Noonan syndrome
Comment Symptoms: pulmonary valve stenosis
//
ID PTPN11_Q79R(1); standard; MUTATION; SH2_1
Accession A0418
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0208
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> R
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Q79R(2); standard; MUTATION; SH2_1
Accession A0419
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0209
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> R
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Q79R(3); standard; MUTATION; SH2_1
Accession A0420
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0210
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> R
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Q79R(4); standard; MUTATION; SH2_1
Accession A0421
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0211
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> R
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Q79R(5); standard; MUTATION; SH2_1
Accession A0422
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0212
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> R
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Q79R(6); standard; MUTATION; SH2_1
Accession A0423
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11704759
RefAuthors Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G.,
RefAuthors Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A.
RefAuthors H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A.,
RefAuthors Kucherlapati, R. S., Gelb, B. D.
RefTitle Mutations in PTPN11, encoding the protein tyrosine
RefTitle phosphatase SHP-2, cause noonan syndrome.
RefLoc Nat Genet:465-468 (2001)
DB CrossRef PTPN11base; A0213
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> R
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Q79R(7); standard; MUTATION; SH2_1
Accession A0424
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11704759
RefAuthors Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G.,
RefAuthors Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A.
RefAuthors H., Ion, A., Jeffery, S., Kalidas, K., Patton, M. A.,
RefAuthors Kucherlapati, R. S., Gelb, B. D.
RefTitle Mutations in PTPN11, encoding the protein tyrosine
RefTitle phosphatase SHP-2, cause noonan syndrome.
RefLoc Nat Genet:465-468 (2001)
DB CrossRef PTPN11base; A0214
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> R
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Q79R(8); standard; MUTATION; SH2_1
Accession A0425
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12634870
RefAuthors Musante, L., Kehl, H. G., Majewski, F., Meinecke, P.,
RefAuthors Schweiger, S., Gillessen-Kaesbach, G., Wieczorek, D.,
RefAuthors Hinkel, G. K., Tinschert, S., Hoeltzenbein, M., Ropers, H.
RefAuthors H., Kalscheuer, V. M.
RefTitle Spectrum of mutations in PTPN11 and genotype-phenotype
RefTitle correlation in 96 patients with noonan syndrome and five
RefTitle patients with cardio-facio-cutaneous syndrome.
RefLoc Eur J Hum Genet:201-206 (2003)
DB CrossRef PTPN11base; A0215
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> R
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Q79R(9); standard; MUTATION; SH2_1
Accession A0426
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12529711
RefAuthors Schollen, E., Matthijs, G., Gewillig, M., Fryns, J. P.,
RefAuthors Legius, E.
RefTitle PTPN11 mutation in a large family with noonan syndrome and
RefTitle dizygous twinning.
RefLoc Eur J Hum Genet:85-88 (2003)
DB CrossRef PTPN11base; A0216
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> R
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Q79R(10); standard; MUTATION; SH2_1
Accession A0427
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0217
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> R
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_Q79R(11); standard; MUTATION; SH2_1
Accession A0428
Systematic name g.32685A>G, c.236A>G, r.236a>g, p.Gln79Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2_1 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15001945
RefAuthors Zenker, M., Buheitel, G., Rauch, R., Koenig, R., Bosse,
RefAuthors K., Kress, W., Tietze, H. U., Doerr, H. G., Hofbeck, M.,
RefAuthors Singer, H., Reis, A., Rauch, A.
RefTitle Genotype-phenotype correlations in noonan syndrome.
RefLoc J Pediatr:368-374 (2004)
DB CrossRef PTPN11base; A0218
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 32685
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 616
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 79
Feature /change: Q -> R
Feature /domain: SH2_1
Diagnosis Noonan syndrome
//
ID PTPN11_E139D(1); standard; MUTATION; SH2_2
Accession A0429
Systematic name g.35548G>C, c.417G>C, r.417g>c, p.Glu139Asp
Description A point mutation in the exon 4 leading to an amino acid
Description change in the SH2_2 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0219
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 35548
Feature /change: g -> c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 797
Feature /codon: gag -> gac; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 139
Feature /change: E -> D
Feature /domain: SH2_2
Diagnosis Noonan syndrome
//
ID PTPN11_E139D(2); standard; MUTATION; SH2_2
Accession A0430
Systematic name g.35548G>T, c.417G>T, r.417g>u, p.Glu139Asp
Description A point mutation in the exon 4 leading to an amino acid
Description change in the SH2_2 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11992261
RefAuthors Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D.
RefAuthors L., van der Burgt, I., Brunner, H. G., Bertola, D. R.,
RefAuthors Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S.,
RefAuthors Patton, M. A., Gelb, B. D.
RefTitle PTPN11 mutations in noonan syndrome: molecular spectrum,
RefTitle genotype-phenotype correlation, and phenotypic
RefTitle heterogeneity.
RefLoc Am J Hum Genet:1555-1563 (2002)
DB CrossRef PTPN11base; A0220
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 35548
Feature /change: g -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 797
Feature /codon: gag -> gat; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 139
Feature /change: E -> D
Feature /domain: SH2_2
Diagnosis Noonan syndrome
//
ID PTPN11_E139D(3); standard; MUTATION; SH2_2
Accession A0431
Systematic name g.35548G>C, c.417G>C, r.417g>c, p.Glu139Asp
Description A point mutation in the exon 4 leading to an amino acid
Description change in the SH2_2 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14644997
RefAuthors Loh, M. L., Vattikuti, S., Schubbert, S., Reynolds, M. G.,
RefAuthors Carlson, E., Lieuw, K. H., Cheng, J. W., Lee, C. M.,
RefAuthors Stokoe, D., Bonifas, J. M., Curtiss, N. P., Gotlib, J.,
RefAuthors Meshinchi, S., Le Beau, M. M., Emanuel, P. D., Shannon, K.
RefAuthors M.
RefTitle Mutations in PTPN11 implicate the SHP-2 phosphatase in
RefTitle leukemogenesis.
RefLoc Blood:2325-2331 (2004)
DB CrossRef PTPN11base; A0221
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 35548
Feature /change: g -> c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 797
Feature /codon: gag -> gac; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 139
Feature /change: E -> D
Feature /domain: SH2_2
Diagnosis Juvenile myelomonocytic leukemia
//
ID PTPN11_E139D(4); standard; MUTATION; SH2_2
Accession A0432
Systematic name p.Glu139Asp
Description A point mutation in the exon 4 leading to an amino acid
Description change in the SH2_2 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17361219
RefAuthors Karow, A., Steinemann, D., Gohring, G., Hasle, H.,
RefAuthors Greiner, J., Harila-Saari, A., Flotho, C., Zenker, M.,
RefAuthors Schlegelberger, B., Niemeyer, C. M., Kratz, C. P.
RefTitle Clonal duplication of a germline PTPN11 mutation due to
RefTitle acquired uniparental disomy in acute lymphoblastic
RefTitle leukemia blasts from a patient with noonan syndrome.
RefLoc Leukemia:1303-1305 (2007)
DB CrossRef PTPN11base; A0232
Feature dna; 1
Feature /rnalink: 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 139
Feature /change: E -> D
Feature /domain: SH2_2
Diagnosis Noonan syndrome
//
ID PTPN11_R152H(1); standard; MUTATION; SH2_2
Accession A0433
Systematic name g.35586G>A, c.455G>A, r.455g>a, p.Arg152His
Description A point mutation in the exon 4 leading to an amino acid
Description change in the SH2_2 domain
Date 18-Feb-2008 (Rel. 1, Created)
Date 18-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16518851
RefAuthors Chen, Y., Takita, J., Hiwatari, M., Igarashi, T., Hanada,
RefAuthors R., Kikuchi, A., Hongo, T., Taki, T., Ogasawara, M.,
RefAuthors Shimada, A., Hayashi, Y.
RefTitle Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma
RefTitle and pediatric hematological malignancies.
RefLoc Genes Chromosomes Cancer:583-591 (2006)
DB CrossRef PTPN11base; A0222
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: PTPN11_DNA: 35586
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_002834.3; GI:33356176; NM_002834: 835
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q06124-2; PTN11_HUMAN: 152
Feature /change: R -> H
Feature /domain: SH2_2
Diagnosis Acute lymphoblastic leukemia (ALL)
//
ID RASA1_R398L(1); standard; MUTATION; SH2_2
Accession A0434
Systematic name g.82417G>T, c.1193G>T, r.1193g>u, p.Arg398Leu
Description A point mutation in the exon 8 leading to an amino acid
Description change in the SH2_2 domain
Date 20-Feb-2008 (Rel. 1, Created)
Date 20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8275088
RefAuthors Friedman, E., Gejman, P. V., Martin, G. A., McCormick, F.
RefTitle Nonsense mutations in the C-terminal SH2 region of the
RefTitle GTPase activating protein (GAP) gene in human tumours.
RefLoc Nat Genet:242-247 (1993)
DB CrossRef RASA1base; A0001
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: RASA1_DNA: 82417
Feature /change: g -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M23379; GI:182971; M23379: 1311
Feature /codon: cga -> cta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P20936; RASA1_HUMAN: 398
Feature /change: R -> L
Feature /domain: SH2_2
Diagnosis Basal cell carcinoma
//
ID RASA1_K400E(1); standard; MUTATION; SH2_2
Accession A0435
Systematic name g.82422A>G, c.1198A>G, r.1198a>g, p.Lys400Glu
Description A point mutation in the exon 8 leading to an amino acid
Description change in the SH2_2 domain
Date 20-Feb-2008 (Rel. 1, Created)
Date 20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8275088
RefAuthors Friedman, E., Gejman, P. V., Martin, G. A., McCormick, F.
RefTitle Nonsense mutations in the C-terminal SH2 region of the
RefTitle GTPase activating protein (GAP) gene in human tumours.
RefLoc Nat Genet:242-247 (1993)
DB CrossRef RASA1base; A0002
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: RASA1_DNA: 82422
Feature /change: a -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M23379; GI:182971; M23379: 1316
Feature /codon: aaa -> gaa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P20936; RASA1_HUMAN: 400
Feature /change: K -> E
Feature /domain: SH2_2
Diagnosis Basal cell carcinoma
//
ID RASA1_I401V(1); standard; MUTATION; SH2_2
Accession A0436
Systematic name g.82425A>G, c.1201A>G, r.1201a>g, p.Ile401Val
Description A point mutation in the exon 8 leading to an amino acid
Description change in the SH2_2 domain
Date 20-Feb-2008 (Rel. 1, Created)
Date 20-Feb-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8275088
RefAuthors Friedman, E., Gejman, P. V., Martin, G. A., McCormick, F.
RefTitle Nonsense mutations in the C-terminal SH2 region of the
RefTitle GTPase activating protein (GAP) gene in human tumours.
RefLoc Nat Genet:242-247 (1993)
DB CrossRef RASA1base; A0003
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: SH2base: RASA1_DNA: 82425
Feature /change: a -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: M23379; GI:182971; M23379: 1319
Feature /codon: ata -> gta; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P20936; RASA1_HUMAN: 401
Feature /change: I -> V
Feature /domain: SH2_2
Diagnosis Basal cell carcinoma
//
ID SH2D1A_#M1X21(1a); standard; MUTATION; SH2
Accession A0437
Description Frameshift deletion in the exon 1
Date 11-Jan-2000 (Rel. 1, Created)
Date 11-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
DB CrossRef SH2D1Abase; A0036
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 39321..39501
Feature /change: -atggacgcag tggctgtgta tcatggcaaa atcagcaggg
Feature /change: aaaccggcga gaagctcctg cttgccactg ggctggatgg
Feature /change: cagctatttg ctgagggaca gcgagagcgt gccaggcgtg
Feature /change: tactgcctat gtgtgctgta tcacggttac atttatacat
Feature /change: accgagtgtc ccagacagaa a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 300..480
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 1..61
Feature /change: MDAVAVYHGK ISRETGEKLL LATGLDGSYF LRDSESVPGV
Feature /change: YCLCVLYHGY IYTYRVSQTE T
Feature /change: -> QVLGVLRQHL GYIKDISGKX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Relative SH2D1A; A0037 brother
Comment -!-Symptoms: anemia, NHL lymphoma, im remission, age 15
//
ID SH2D1A_#M1X21(1b); standard; MUTATION; SH2
Accession A0438
Description Frameshift deletion in the exon 1
Date 11-Jan-2000 (Rel. 1, Created)
Date 11-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
DB CrossRef SH2D1Abase; A0037
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 39321..39501
Feature /change: -atggacgcag tggctgtgta tcatggcaaa atcagcaggg
Feature /change: aaaccggcga gaagctcctg cttgccactg ggctggatgg
Feature /change: cagctatttg ctgagggaca gcgagagcgt gccaggcgtg
Feature /change: tactgcctat gtgtgctgta tcacggttac atttatacat
Feature /change: accgagtgtc ccagacagaa a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 300..480
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 1..61
Feature /change: MDAVAVYHGK ISRETGEKLL LATGLDGSYF LRDSESVPGV
Feature /change: YCLCVLYHGY IYTYRVSQTE T
Feature /change: -> QVLGVLRQHL GYIKDISGKX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Relative SH2D1A; A0036 brother
Comment -!-Symptoms: anemia, NHL lymphoma, im remission, age 10
//
ID SH2D1A_Y7C(1); standard; MUTATION; SH2
Accession A0439
Description Missense mutation in the exon 1
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0049
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39340
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 319
Feature /codon: tat -> tgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 7
Feature /change: Y -> C
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K046
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: aplastic anemia
//
ID SH2D1A_H8D(1); standard; MUTATION; SH2
Accession A0440
Original code 9
Description Missense mutation in the exon 1
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
DB CrossRef SH2D1Abase; A0088
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39342
Feature /change: c -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 321
Feature /codon: cat -> gat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 8
Feature /change: H -> D
Symptoms Classical XLP
Sex XY
Family history Inherited
Ethnic origin Japanese
Comment -!-Family history: one brother with
Comment -!-Family history: hypogammaglobulinemia
Comment -!-Clinical history: stable at 17 years old
Comment -!-Clinical history: under intravenous immunoglobulins
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: hypogammaglobulinemia
//
ID SH2D1A_H8P(1); standard; MUTATION; SH2
Accession A0441
Systematic name g.39343A>C, c.23A>C, r.23a>c, p.His8Pro
Description A point mutation in the exon 1 leading to an amino acid
Description change in the SH2 domain
Date 02-Mar-2007 (Rel. 1, Created)
Date 02-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16328363
RefAuthors Alangari, A., Abobaker, A., Kanegane, H., Miyawaki, T.
RefTitle X-linked lymphoproliferative disease associated with
RefTitle hypogammaglobulinemia and growth-hormone deficiency.
RefLoc Eur J Pediatr:165-167 (2006)
DB CrossRef SH2D1Abase; A0110
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39343
Feature /change: a -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 322
Feature /codon: cat -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 8
Feature /change: H -> P
Feature /domain: SH2
Protein level Reduced
Diagnosis X-linked lymphoproliferative syndrome
Symptoms recurrent infections, growth failure,
Symptoms hypogammaglobulinemia, lymphoma, EBV infection
Age 7
Sex XY
Ethnic origin Saudi Arabia
IgA 0.00g/l
IgG 0.29g/l
IgM 0.13g/l
Comment Significantly low growth hormone levels. Patient underwent
Comment a bone-marrow transplant from an HLA-identical sister. Died
Comment of post-transplant complications a few months later at the
Comment age of 7. Relatives: Parents distant relatives. Three
Comment sisters and four brothers all healthy.
//
ID SH2D1A_G16D(1a); standard; MUTATION; SH2
Accession A0442
Systematic name g.39367G>A, c.47G>A, r.47g>a, p.Gly16Asp
Description A point mutation in the exon 1 leading to an amino acid
Description change in the SH2 domain
Date 02-Mar-2007 (Rel. 1, Created)
Date 02-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15841490
RefAuthors Erdös, M., Uzvolgyi, E., Nemes, Z., Torok, O., Rakoczi,
RefAuthors E., Went-Sumegi, N., Sumegi, J., Marodi, L.
RefTitle Characterization of a new disease-causing mutation of
RefTitle SH2D1A in a family with X-linked lymphoproliferative
RefTitle disease.
RefLoc Hum Mutat:506 (2005)
DB CrossRef SH2D1Abase; A0111
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39367
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 346
Feature /codon: ggc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 16
Feature /change: G -> D
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Symptoms pharyngitis, hepatosplenomegaly, maculopapular exanthemas,
Symptoms generalized lymphadenopathy, hepatic failure, respiratory
Symptoms arrest, EBV infection
Age <1
Sex XY
Ethnic origin Hungary
Family history Inherited
Relative SH2D1Abase; A0112 maternal uncle
Comment Mutant protein half-life was comparable to the WT protein.
Comment The mutated protein was not able to associate with SLAM or
Comment 2B4. Patient died at the age of 8 months.
//
ID SH2D1A_G16D(1b); standard; MUTATION; SH2
Accession A0443
Systematic name g.39367G>A, c.47G>A, r.47g>a, p.Gly16Asp
Description A point mutation in the exon 1 leading to an amino acid
Description change in the SH2 domain
Date 02-Mar-2007 (Rel. 1, Created)
Date 02-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15841490
RefAuthors Erdös, M., Uzvolgyi, E., Nemes, Z., Torok, O., Rakoczi,
RefAuthors E., Went-Sumegi, N., Sumegi, J., Marodi, L.
RefTitle Characterization of a new disease-causing mutation of
RefTitle SH2D1A in a family with X-linked lymphoproliferative
RefTitle disease.
RefLoc Hum Mutat:506 (2005)
DB CrossRef SH2D1Abase; A0112
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39367
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 346
Feature /codon: ggc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 16
Feature /change: G -> D
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Symptoms pharyngitis, hepatosplenomegaly, lymphadenopathy,
Symptoms respiratory distress, jaundice, lethargy, hepatic failure,
Symptoms cerebral edema, cerebellar herniation, EBV infection
Sex XY
Ethnic origin Hungary
Family history Inherited
Relative SH2D1Abase; A0111 nephew
Comment Mutation analysis in the patient was not applicable, but
Comment based on the clinical phenotype, the histological findings
Comment and the pedigree it is proposed that the patient had the
Comment same mutation as his nephew did. The patient died at the
Comment age of 9.
//
ID SH2D1A_G27S(1); standard; MUTATION; SH2
Accession A0444
Original code 8
Description Missense mutation in the exon 1
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
DB CrossRef SH2D1Abase; A0089
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39399
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 378
Feature /codon: ggc -> agc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 27
Feature /change: G -> S
Symptoms Classical XLP
Family history Sporadic
Ethnic origin Japanese
Comment -!-Clinical history: died after 1 month
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID SH2D1A_S28R(1); standard; MUTATION; SH2
Accession A0445
Description Missense mutation in the exon 1
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0050
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39404
Feature /change: c -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 383
Feature /codon: agc -> agg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 28
Feature /change: S -> R
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 5 other affected males in the K068
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID SH2D1A_L31P(1); standard; MUTATION; SH2
Accession A0446
Description Missense mutation in the exon 1
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0051
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39412
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 391
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 31
Feature /change: L -> P
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K089
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: malignant lymphoma
//
ID SH2D1A_R32T(1); standard; MUTATION; SH2
Accession A0447
Original code 4
Description Missense mutation in the exon 1 leading to amino acid
Description change in SH2 domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
DB CrossRef SH2D1Abase; A0013
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39415
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 394
Feature /codon: agg -> acg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 32
Feature /change: R -> T
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history De novo
//
ID SH2D1A_D33Y(1); standard; MUTATION; SH2
Accession A0448
Original code 7
Description Missense mutation in the exon 1
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
DB CrossRef SH2D1Abase; A0090
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39417
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 396
Feature /codon: gac -> tac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 33
Feature /change: D -> Y
Symptoms Classical XLP
Family history Inherited
Ethnic origin Japanese
Comment -!-Family history: one brother with lymphoma and
Comment -!-Family history: hypogammaglobulinemia
Comment -!-Family history: carriers mother and sister; ref [1]
Comment -!-Clinical history: in remission after chemotherapy
Comment -!-Clinical history: followed by peripheral blood
Comment -!-Clinical history: stem cell transplatation
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: hypogammaglobulinemia since 4 years old
//
ID SH2D1A_S34G(1a); standard; MUTATION; SH2
Accession A0449
Systematic name g.39420A>G, c.100A>G, r.100a>g, p.Ser34Gly
Description A point mutation in the exon 1 leading to an amino acid
Description change in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12356686
RefAuthors Shinozaki, K., Kanegane, H., Matsukura, H., Sumazaki, R.,
RefAuthors Tsuchida, M., Makita, M., Kimoto, Y., Kanai, R., Tsumura,
RefAuthors K., Kondoh, T., Moriuchi, H., Miyawaki, T.
RefTitle Activation-dependent T cell expression of the X-linked
RefTitle lymphoproliferative disease gene product SLAM-associated
RefTitle protein and its assessment for patient detection.
RefLoc Int Immunol:1215-1223 (2002)
DB CrossRef SH2D1Abase; A0120
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39420
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 399
Feature /codon: agc -> ggc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 34
Feature /change: S -> G
Feature /domain: SH2
Protein level Reduced
Diagnosis X-linked lymphoproliferative syndrome
Symptoms recurrent infections, hypogammaglobulinemia
Age 12
Sex XY
Ethnic origin Japan
Family history Inherited
Relative SH2D1Abase; A0121 brother
IgA 12mg/dl
IgG 2mg/dl
IgM 55mg/dl
Comment Patient died of malignant lymphoma and pancytopenia
//
ID SH2D1A_S34G(1b); standard; MUTATION; SH2
Accession A0450
Systematic name g.39420A>G, c.100A>G, r.100a>g, p.Ser34Gly
Description A point mutation in the exon 1 leading to an amino acid
Description change in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12356686
RefAuthors Shinozaki, K., Kanegane, H., Matsukura, H., Sumazaki, R.,
RefAuthors Tsuchida, M., Makita, M., Kimoto, Y., Kanai, R., Tsumura,
RefAuthors K., Kondoh, T., Moriuchi, H., Miyawaki, T.
RefTitle Activation-dependent T cell expression of the X-linked
RefTitle lymphoproliferative disease gene product SLAM-associated
RefTitle protein and its assessment for patient detection.
RefLoc Int Immunol:1215-1223 (2002)
DB CrossRef SH2D1Abase; A0121
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39420
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 399
Feature /codon: agc -> ggc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 34
Feature /change: S -> G
Feature /domain: SH2
Protein level Reduced
Diagnosis X-linked lymphoproliferative syndrome
Age 10
Sex XY
Ethnic origin Japan
Family history Inherited
Relative SH2D1Abase; A0120 brother
IgA 202mg/dl
IgG 504mg/dl
IgM 90mg/dl
//
ID SH2D1A_S34R(1); standard; MUTATION; SH2
Accession A0451
Systematic name g.39422C>A, c.102C>A, r.102c>a, p.Ser34Arg
Original code P2
Description A point mutation in the exon 1 leading to an amino acid
Description change in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632210
RefAuthors Tabata, Y., Villanueva, J., Lee, S. M., Zhang, K.,
RefAuthors Kanegane, H., Miyawaki, T., Sumegi, J., Filipovich, A. H.
RefTitle Rapid detection of intracellular SH2D1A protein in
RefTitle cytotoxic lymphocytes from patients with X-linked
RefTitle lymphoproliferative disease and their family members.
RefLoc Blood:3066-3071 (2005)
DB CrossRef SH2D1Abase; A0122
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39422
Feature /change: c -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 401
Feature /codon: agc -> aga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 34
Feature /change: S -> R
Feature /domain: SH2
Protein level N.D.
Diagnosis X-linked lymphoproliferative syndrome
Symptoms Recurrent B cell lymphoma
Age 13
//
ID SH2D1A_G39G(1); standard; MUTATION; SH2
Accession A0452
Original code 6
Description Point mutation in the exon 1 creating cryptic
Description splice site and leading to 22 bp deletion from exon 1,
Description frameshift and stop codon in SH2 domain
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
DB CrossRef SH2D1Abase; A0096
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 39437
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature /note: cDNA location 416
Feature /note: codon change ggc -> ggt; 3
Feature /note: create an aberrant donor splice site
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: loss of exon sequence; frameshift
Feature /note: deletion of 22 bp in exon 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Protein struct Splice defect
Symptoms Classical XLP
Family history Inherited
Ethnic origin Japanese
Comment -!-Family history: one brother with
Comment -!-Family history: EBV-negative lymphoma
Comment -!-Family history: carrier mother; ref [1]
Comment -!-Clinical history: died after 21 days
Comment -!-Symptoms: fulminant infectious mononucleosis,
//
ID SH2D1A_C42W(1); standard; MUTATION; SH2
Accession A0453
Description Missense mutation in the exon 1
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0052
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39446
Feature /change: c -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 425
Feature /codon: tgc -> tgg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 42
Feature /change: C -> W
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 4 other affected males in the K037
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID SH2D1A_#L46X49(1); standard; MUTATION; SH2
Accession A0454
Description Frameshift deletion in the exon 2
Date 10-Jul-2001 (Rel. 1, Created)
Date 10-Jul-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0053
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58439..58688
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgagacagca cctggggtac
Feature /change: ataaaagata tttccggaaa ataaaaaatc tcatttcagc
Feature /change: atttcagaag ccagatcaag gcattgtaat acctctgcag
Feature /change: tatccagttg agaagaagtc ctcagctaga agtacacaag
Feature /change: gtactacagg gataagagaa gatcctgatg tctgcctgaa
Feature /change: agccccatga
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 437..686
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 46..129
Feature /change: LYHGYIYTYR VSQTETGSWS AETAPGVHKR YFRKIKNLIS
Feature /change: AFQKPDQGIV IPLQYPVEKK SSARSTQGTT GIREDPDVCL
Feature /change: KAPX
Feature /change: -> LEKX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 4 other affected males in the K005
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID SH2D1A_#L46X49(2); standard; MUTATION; SH2
Accession A0455
Description Frameshift deletion in the exon 2
Date 10-Jul-2001 (Rel. 1, Created)
Date 10-Jul-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0054
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58439..58688
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgagacagca cctggggtac
Feature /change: ataaaagata tttccggaaa ataaaaaatc tcatttcagc
Feature /change: atttcagaag ccagatcaag gcattgtaat acctctgcag
Feature /change: tatccagttg agaagaagtc ctcagctaga agtacacaag
Feature /change: gtactacagg gataagagaa gatcctgatg tctgcctgaa
Feature /change: agccccatga
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 437..686
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 46..129
Feature /change: LYHGYIYTYR VSQTETGSWS AETAPGVHKR YFRKIKNLIS
Feature /change: AFQKPDQGIV IPLQYPVEKK SSARSTQGTT GIREDPDVCL
Feature /change: KAPX
Feature /change: -> LEKX
Symptoms Classical XLP
Sex XY
Protein struct Large deletion
Family history Inherited
Comment -!-Family history: an other affected male in the K083
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID SH2D1A_#L46X59(1); standard; MUTATION; SH2
Accession A0456
Original code XLP-M
Description Frameshift deletion in the exon 2
Date 12-Jan-2000 (Rel. 1, Created)
Date 12-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
DB CrossRef SH2D1Abase; A0038
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58439..58502
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgag
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 437..500
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 46..67
Feature /change: LYHGYIYTYR VSQTETGSWS AE -> LQHLGYIKDI SGKX
Symptoms Classical XLP
Sex XY
Family history Inherited
//
ID SH2D1A_#L46X59(3); standard; MUTATION; SH2
Accession A0457
Description Frameshift deletion in the exon 2
Date 10-Jul-2001 (Rel. 1, Created)
Date 10-Jul-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0056
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58439..58502
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgag
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 437..500
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 46..67
Feature /change: LYHGYIYTYR VSQTETGSWS AE -> LQHLGYIKDI SGKX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K032
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID SH2D1A_#Y47X51(1); standard; MUTATION; SH2
Accession A0458
Description Frameshift deletion in the exon 2
Date 10-Jul-2001 (Rel. 1, Created)
Date 10-Jul-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0057
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58441..58487
Feature /change: -atcacggtta catttataca taccgagtgt cccagacaga
Feature /change: aacaggt
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 439..485
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 47..62
Feature /change: YHGYIYTYRV SQTETG -> FLECX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K061
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID SH2D1A_G49V(1); standard; MUTATION; SH2
Accession A0459
Original code 10
Description Missense mutation in the exon 2
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
DB CrossRef SH2D1Abase; A0091
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58447
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 445
Feature /codon: ggt -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 49
Feature /change: G -> V
Symptoms Classical XLP
Family history Sporadic
Ethnic origin Japanese
Comment -!-Family history: carrier mother; ref [1]
Comment -!-Clinical history: in remission after chemotherapy
Comment -!-Clinical history: umbilical stem cell transplantation
Comment -!-Symptoms: EBV-associated lymphoma
//
ID SH2D1A_@G49X67(1a); standard; MUTATION; SH2
Accession A0460
Systematic name g.58447dupG, c.146dupG, r.146dupg, p.Tyr50fsX17
Description A frame shift duplication mutation in the exon 2 leading to
Description a premature stop codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17058098
RefAuthors Hugle, B., Astigarraga, I., Henter, J. I., Porwit-
RefAuthors Macdonald, A., Meindl, A., Schuster, V.
RefTitle Simultaneous manifestation of fulminant infectious
RefTitle mononucleosis with haemophagocytic syndrome and B-cell
RefTitle lymphoma in X-linked lymphoproliferative disease.
RefLoc Eur J Pediatr (2006)
DB CrossRef SH2D1Abase; A0113
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0078: 58448
Feature /change: +g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 446
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 49
Feature /change: G -> GLHLYIPSVP DRNRFLECX
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Symptoms signs of severe infectious mononucleosis, EBV infection,
Symptoms hepatic failure, coagulopathy, pancytopenia
Sex XY
Ethnic origin Spain
Family history Inherited
Relative SH2D1Abase; A0114 half-brother
IgA 7.1
IgG 20.93
IgM 7.17
Comment The patient died at the age of 4 of severe intracranial
Comment hypertension. Genetic analysis was not performed, but the
Comment diagnosis of XLP in the family was confirmed by mutation
Comment screening for SH2D1A in the mother and the maternal aunt of
Comment the patient, who were identified as carriers of the
Comment mutation.
//
ID SH2D1A_@G49X67(1b); standard; MUTATION; SH2
Accession A0461
Systematic name g.58447dupG, c.146dupG, r.146dupg, p.Tyr50fsX17
Description A frame shift duplication mutation in the exon 2 leading to
Description a premature stop codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17058098
RefAuthors Hugle, B., Astigarraga, I., Henter, J. I., Porwit-
RefAuthors Macdonald, A., Meindl, A., Schuster, V.
RefTitle Simultaneous manifestation of fulminant infectious
RefTitle mononucleosis with haemophagocytic syndrome and B-cell
RefTitle lymphoma in X-linked lymphoproliferative disease.
RefLoc Eur J Pediatr (2006)
DB CrossRef SH2D1Abase; A0114
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0078: 58448
Feature /change: +g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 446
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 49
Feature /change: G -> GLHLYIPSVP DRNRFLECX
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Sex XY
Ethnic origin Spain
Family history Inherited
Relative SH2D1Abase; A0113 half-brother
Comment The patient died of meningitis and pulmonary bleeding.
Comment Genetic analysis was not performed, but the diagnosis of
Comment XLP in the family was confirmed by mutation screening for
Comment SH2D1A in the mother and the maternal aunt of the patient,
Comment who were identified as carriers of the mutation.
//
ID SH2D1A_#Y50X56(1a); standard; MUTATION; SH2
Accession A0462
Description Deletion of 53 nucleotides in the exon 2 and 106
Description nucleotide deletion in the 5' intron sequence following
Description exon 2
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
DB CrossRef SH2D1Abase; A0020
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0078: 58450..58608
Feature /change: -acatttatac ataccgagtg tcccagacag aaacaggttc
Feature /change: ttggagtgct gaggtatagt tgtatttatt tttgcttctg
Feature /change: ggggtgtcaa ggaggtattt gaaatttagg ctggttttat
Feature /change: aaaagagcaa attatacatt attaagtatt cataaggtt
Feature /genomic_region: exon; 2
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 448..500
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 50..67
Feature /change: YIYTYRVSQT ETGSWSAE -> YSTWGTX
Symptoms Classical XLP
Protein struct Large deletion
Symptoms classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0021 brother
//
ID SH2D1A_#Y50X56(1b); standard; MUTATION; SH2
Accession A0463
Description Deletion of 53 nucleotides in the exon 2 and 106
Description nucleotide deletion in the 5' intron sequence following
Description exon 2
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
DB CrossRef SH2D1Abase; A0021
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0078: 58450..58608
Feature /change: -acatttatac ataccgagtg tcccagacag aaacaggttc
Feature /change: ttggagtgct gaggtatagt tgtatttatt tttgcttctg
Feature /change: ggggtgtcaa ggaggtattt gaaatttagg ctggttttat
Feature /change: aaaagagcaa attatacatt attaagtatt cataaggtt
Feature /genomic_region: exon; 2
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 448..500
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 50..67
Feature /change: YIYTYRVSQT ETGSWSAE -> YSTWGTX
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Relative SH2D1A; A0020 brother
//
ID SH2D1A_T53R(1); standard; MUTATION; SH2
Accession A0464
Description Missense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0058
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58459
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 457
Feature /codon: aca -> aga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 53
Feature /change: T -> R
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 13 other affected males in the K053
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: dysgammaglobulinemia
Comment -!-Coded as T53I in the ref [1] by mistake
//
ID SH2D1A_Y54C(1); standard; MUTATION; SH2
Accession A0465
Description Missense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0059
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58462
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 460
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 54
Feature /change: Y -> C
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: an other affected male in the K038
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID SH2D1A_Y54C(2); standard; MUTATION; SH2
Accession A0466
Systematic name g.58462A>G, c.161A>G, r.161a>g, p.Tyr54Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the SH2 domain
Date 20-Feb-2007 (Rel. 1, Created)
Date 20-Feb-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
DB CrossRef SH2D1Abase; A0105
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58462
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 460
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 54
Feature /change: Y -> C
Feature /domain: SH2
Protein level Much reduced
Protein struct Reduced half-life
Diagnosis X-linked lymphoproliferative syndrome
Comment The mutated protein was not able to associate with SLAM,
Comment 2B4, or CD84
//
ID SH2D1A_R55L(1); standard; MUTATION; SH2
Accession A0467
Description Missense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11133747
RefAuthors Dutz, J. P., Benoit, L., Wang, X., Demetrick, D. J.,
RefAuthors Junker, A., de Sa, D. and Tan, R.
RefTitle Lymphocytic vasculitis in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 97: 95-100 (2000)
DB CrossRef SH2D1Abase; A0083
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58465
Feature /change: g -> t
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 463
Feature /codon: cga -> cta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> L
Symptoms Classical XLP
Date of birth 1985
Sex XY
Family history Inherited
Age at death 12; Cause: chronic systemic vasculitis and XLP
Comment -!-Family history: an affected male cousin, four female
Comment -!-Family history: carriers; ref [1]
Comment -!-Symptoms: virus associated hemophagocytic syndrome,
Comment -!-Symptoms: later chorioretinitis, bronchiectasis,
Comment -!-Symptoms: hypogammaglobulinemia and fatal respiratory failure
//
ID SH2D1A_R55X(1); standard; MUTATION; SH2
Accession A0468
Original code D; 1; XLP-D
Description Point mutation in the exon 2 leading to stop codon in SH2
Description domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
RefNumber [2]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
RefNumber [3]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
DB CrossRef SH2D1Abase; A0004
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Protein struct Premature stop
Symptoms Classical XLP
Sex XY
Family history De novo
//
ID SH2D1A_R55X(3); standard; MUTATION; SH2
Accession A0469
Original code XLP-H
Description Nonsense mutation in the exon 2
Date 11-Jan-2000 (Rel. 1, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
DB CrossRef SH2D1Abase; A0039
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Sex XY
//
ID SH2D1A_R55X(4); standard; MUTATION; SH2
Accession A0470
Original code IARC694
Description Nonsense mutation in the exon 2
Date 11-Jan-2000 (Rel. 1, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
DB CrossRef SH2D1Abase; A0040
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Sex XY
//
ID SH2D1A_R55X(5); standard; MUTATION; SH2
Accession A0471
Original code C
Description Nonsense mutation in the exon 2
Date 12-Jan-2000 (Rel. 1, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10694488
RefAuthors Lappalainen, I., Giliani, S., Franceschini, R.,
RefAuthors Bonnefoy, J.Y., Duckett, C., Notarangelo, L.D., Vihinen, M.
RefTitle Structural basis for SH2D1A mutations in X-linked
RefTitle lymphoproliferative disease
RefLoc Biochem Biophys Res Commun 269:124-130 (2000)
DB CrossRef SH2D1Abase; A0046
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: elder brother died at 16 months of non-Hodgkin
Comment -!-Family history: lymphoma
Comment -!-Symptoms: died at 4 years of fatal hepatitis following EBV-
Comment -!-Symptoms: infection
//
ID SH2D1A_R55X(6); standard; MUTATION; SH2
Accession A0472
Original code D
Description Nonsense mutation in the exon 2
Date 12-Jan-2000 (Rel. 1, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10694488
RefAuthors Lappalainen, I., Giliani, S., Franceschini, R.,
RefAuthors Bonnefoy, J.Y., Duckett, C., Notarangelo, L.D., Vihinen, M.
RefTitle Structural basis for SH2D1A mutations in X-linked
RefTitle lymphoproliferative disease
RefLoc Biochem Biophys Res Commun 269:124-130 (2000)
DB CrossRef SH2D1Abase; A0047
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Sex XY
Age 56
Family history Inherited
Comment -!-Family history: nephew who developed EBV-related
Comment -!-Family history: non-Hodgkin lymphoma at 3 years
Comment -!-Symptoms: hypogammaglobulinemia
//
ID SH2D1A_R55X(7); standard; MUTATION; SH2
Accession A0473
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0060
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: 15 other affected males in the K003
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders
//
ID SH2D1A_R55X(8); standard; MUTATION; SH2
Accession A0474
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0061
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: 5 other affected males in the K004
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: dysgammaglobulinemia
//
ID SH2D1A_R55X(9); standard; MUTATION; SH2
Accession A0475
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0062
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: an affected male in the K019
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID SH2D1A_R55X(10); standard; MUTATION; SH2
Accession A0476
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0063
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: an affected male in the K030
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders
//
ID SH2D1A_R55X(11); standard; MUTATION; SH2
Accession A0477
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0064
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: an affected male in the K069
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID SH2D1A_R55X(12); standard; MUTATION; SH2
Accession A0478
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0065
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K081
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID SH2D1A_R55X(13); standard; MUTATION; SH2
Accession A0479
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0066
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: 7 other affected males in the K006
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis
Comment -!-Symptoms: lymphoproliferative disorders
Comment -!-Symptoms: coded in the ref [1] as Q58X thought the
Comment -!-Symptoms: mutation at the nucleic acid level equals
Comment -!-Symptoms: to R55X
//
ID SH2D1A_R55X(14); standard; MUTATION; SH2
Accession A0480
Original code HLH-SM
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11159547
RefAuthors Arico, M., Imashuku, S., Clementi, R., Hibi, S, Teramura,
RefAuthors T., damesino, C., Haber, D. A. and Nichols, K. E.
RefTitle Hemophagocytic lymphohistiocytic due to germline mutations
RefTitle in SH2D1A, the X-linked lymphoproliferative disease
RefTitle gene
RefLoc Blood, 97: 1131-1133 (2001)
DB CrossRef SH2D1Abase; A0084
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Ethnic origin italy
Family history Inherited
Comment -!-Family history: a brother diagnosed with fever and cytopenia
Comment -!-Family history: during infancy and a second male sibling
Comment -!-Family history: with Burkitt's lymphoma at the age of 3
Comment -!-Symptoms: hemophagocytic lymphocytosis
//
ID SH2D1A_R55X(15a); standard; MUTATION; SH2
Accession A0481
Original code 1
Description Nonsense mutation in the exon 2
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
DB CrossRef SH2D1Abase; A0092
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Protein struct Premature stop
Symptoms Classical XLP
Family history Inherited
Ethnic origin Japanese
Relative SH2D1A; A0093 brother
Comment -!-Family history: carriers gramdmother
Comment -!-Family history: and mother; ref [1]
Comment -!-Clinical history: died after 19 days
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID SH2D1A_R55X(15b); standard; MUTATION; SH2
Accession A0482
Original code 2
Description Nonsense mutation in the exon 2
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
DB CrossRef SH2D1Abase; A0093
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Protein struct Premature stop
Symptoms Classical XLP
Family history Inherited
Ethnic origin Japanese
Relative SH2D1A; A0092 brother
Comment -!-Family history: carriers gramdmother
Comment -!-Family history: and mother; ref [1]
Comment -!-Clinical history: died after 20 days
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID SH2D1A_R55X(16); standard; MUTATION; SH2
Accession A0483
Original code 3
Description Nonsense mutation in the exon 2
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
DB CrossRef SH2D1Abase; A0094
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Protein struct Premature stop
Symptoms Classical XLP
Family history Sporadic
Ethnic origin Japanese
Comment -!-Clinical history: died after 18 days
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID SH2D1A_R55X(17a); standard; MUTATION; SH2
Accession A0484
Original code CL
Description Point mutation in the exon 2 leading to stop codon in SH2
Description domain
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
RefNumber [2]
RefCrossRef PUBMED; 4174268
RefAuthors Buckley, R.H., Sidbury, J.B.
RefTitle Hereditary alterations in the immune response: and
RefTitle coexistence of "agammaglobulinemia", acquired
RefTitle hypogammaglobulinemia selective immunoglobulin
RefTitle deficiency in a sibship
RefLoc Pediatr Res 2:72-84 (1968)
DB CrossRef SH2D1Abase; A0098
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Protein struct Premature stop
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0099 grandfather
Comment -!-Family history: well-studied pedigree and patient
Comment -!-Family history: information; ref [1,2]
Comment -!-Family history: two affected great-uncles and
Comment -!-Family history: a carrier mother
Comment -!-Symptoms: died at the age of 22 months of an
Comment -!-Symptoms: Aspergillus infection secondary to
Comment -!-Symptoms: aplastic anemia
//
ID SH2D1A_R55X(17b); standard; MUTATION; SH2
Accession A0485
Original code CG
Description Point mutation in the exon 2 leading to stop codon in SH2
Description domain
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
RefNumber [2]
RefCrossRef PUBMED; 4174268
RefAuthors Buckley, R.H., Sidbury, J.B.
RefTitle Hereditary alterations in the immune response: and
RefTitle coexistence of "agammaglobulinemia", acquired
RefTitle hypogammaglobulinemia selective immunoglobulin
RefTitle deficiency in a sibship
RefLoc Pediatr Res 2:72-84 (1968)
DB CrossRef SH2D1Abase; A0099
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Protein struct Premature stop
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0099 grandson
Comment -!-Family history: well-studied pedigree and patient
Comment -!-Family history: information; ref [1,2]
Comment -!-Family history: two affected brothers and
Comment -!-Family history: a carrier daughter
Comment -!-Symptoms: died at the age of 38 of bacterial pneumonia
//
ID SH2D1A_R55X(18); standard; MUTATION; SH2
Accession A0486
Systematic name g.58464C>T, c.163C>T, r.163c>u, p.Arg55X
Original code HLH-SM
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11159547
RefAuthors Arico, M., Imashuku, S., Clementi, R., Hibi, S., Teramura,
RefAuthors T., Danesino, C., Haber, D. A., Nichols, K. E.
RefTitle Hemophagocytic lymphohistiocytosis due to germline
RefTitle mutations in SH2D1A, the X-linked lymphoproliferative
RefTitle disease gene.
RefLoc Blood:1131-1133 (2001)
DB CrossRef SH2D1Abase; A0115
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Sex XY
Ethnic origin Italy
//
ID SH2D1A_R55X(19); standard; MUTATION; SH2
Accession A0487
Systematic name g.58464C>T, c.163C>T, r.163c>u, p.Arg55X
Original code PR
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12224001
RefAuthors Parolini, O., Kagerbauer, B., Simonitsch-Klupp, I.,
RefAuthors Ambros, P., Jaeger, U., Mann, G., Haas, O. A., Morra, M.,
RefAuthors Gadner, H., Terhorst, C., Knapp, W., Holter, W.
RefTitle Analysis of SH2D1A mutations in patients with severe
RefTitle epstein-barr virus infections, burkitt's lymphoma, and
RefTitle hodgkin's lymphoma.
RefLoc Ann Hematol:441-447 (2002)
DB CrossRef SH2D1Abase; A0117
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
//
ID SH2D1A_R55X(20a); standard; MUTATION; SH2
Accession A0488
Systematic name g.58464C>T, c.163C>T, r.163c>u, p.Arg55X
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12356686
RefAuthors Shinozaki, K., Kanegane, H., Matsukura, H., Sumazaki, R.,
RefAuthors Tsuchida, M., Makita, M., Kimoto, Y., Kanai, R., Tsumura,
RefAuthors K., Kondoh, T., Moriuchi, H., Miyawaki, T.
RefTitle Activation-dependent T cell expression of the X-linked
RefTitle lymphoproliferative disease gene product SLAM-associated
RefTitle protein and its assessment for patient detection.
RefLoc Int Immunol:1215-1223 (2002)
DB CrossRef SH2D1Abase; A0118
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Protein level Reduced
Diagnosis X-linked lymphoproliferative syndrome
Symptoms remittent fever, lymph node swelling in cervical and
Symptoms inguinal regions, hepatosplenomegaly, EBV infection,
Symptoms hypogammaglobulinemia
Age 6-7
Sex XY
Ethnic origin Japan
Relative SH2D1Abase; A0119 brother
IgA <4mg/dl
IgG 54 mg/dl
IgM 14mg/dl
Comment Patient underwent a successful bone marrow transplantation
//
ID SH2D1A_R55X(20b); standard; MUTATION; SH2
Accession A0489
Systematic name g.58464C>T, c.163C>T, r.163c>u, p.Arg55X
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12356686
RefAuthors Shinozaki, K., Kanegane, H., Matsukura, H., Sumazaki, R.,
RefAuthors Tsuchida, M., Makita, M., Kimoto, Y., Kanai, R., Tsumura,
RefAuthors K., Kondoh, T., Moriuchi, H., Miyawaki, T.
RefTitle Activation-dependent T cell expression of the X-linked
RefTitle lymphoproliferative disease gene product SLAM-associated
RefTitle protein and its assessment for patient detection.
RefLoc Int Immunol:1215-1223 (2002)
DB CrossRef SH2D1Abase; A0119
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58464
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 462
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 55
Feature /change: R -> X
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Age 0.5
Sex XY
Ethnic origin Japan
Relative SH2D1Abase; A0118 brother
Comment Monthly i.v. Ig was begun after diagnosis to prevent severe
Comment EBV-induced illnesses
//
ID SH2D1A_Q58X(1); standard; MUTATION; SH2
Accession A0490
Original code T
Description Point mutation in the exon 2 leading to stop codon in SH2
Description domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
DB CrossRef SH2D1Abase; A0005
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58473
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 471
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 58
Feature /change: Q -> X
Feature /domain: SH2
Protein struct Premature stop
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: fulminant IM, EBV-associated lymphoma
Comment -!-Symptoms: or hypogammaglobulinemia
//
ID SH2D1A_Q58X(2); standard; MUTATION; SH2
Accession A0491
Original code 8005; 2; Lb8005
Description Point mutation in the exon 2 leading to stop codon in SH2
Description domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
RefNumber [2]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
RefNumber [3]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
DB CrossRef SH2D1Abase; A0006
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58473
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL:AL023657; GI:3153107; HSDSHP: 471
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 58
Feature /change: Q -> X
Feature /domain: SH2
Protein struct Premature stop
Symptoms Classical XLP
Sex XY
Family history De novo
//
ID SH2D1A_#T61X66(1); standard; MUTATION; SH2
Accession A0492
Original code 8001
Description Deletion of 23 nucleotides from the exon 2 leading to
Description premature stop in the SH2 domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
DB CrossRef SH2D1Abase; A0007
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 58483..58505
Feature /change: -caggttcttg gagtgctgag aca
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 481..503
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 61..68
Feature /change: TGSWSAET -> STWGTX
Protein struct Premature stop
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: fulminant IM, EBV-associated lymphoma
Comment -!-Symptoms: or hypogammaglobulinemia
//
ID SH2D1A_W64X(1); standard; MUTATION; SH2
Accession A0493
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0067
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58492
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 490
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 64
Feature /change: W -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: 5 other affected males in the K084
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID SH2D1A_W64X(2); standard; MUTATION; SH2
Accession A0494
Description Nonsense mutation in the exon 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0068
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58492
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 490
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 64
Feature /change: W -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K054
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders
//
ID SH2D1A_E67D(1a); standard; MUTATION; SH2
Accession A0495
Original code 5
Description Point mutation in the exon 13 creating cryptic
Description splice site
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
DB CrossRef SH2D1Abase; A0014
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58502
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 500
Feature /codon: gag -> gat; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 67
Feature /change: E -> D
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0015 brother
Relative SH2D1A; A0016brother
//
ID SH2D1A_E67D(1b); standard; MUTATION; SH2
Accession A0496
Description Point mutation in the exon 13 creating cryptic
Description splice site
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
DB CrossRef SH2D1Abase; A0015
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58502
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 500
Feature /codon: gag -> gat; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 67
Feature /change: E -> D
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0014 brother
Relative SH2D1A; A0016 brother
//
ID SH2D1A_E67D(1c); standard; MUTATION; SH2
Accession A0497
Description Point mutation in the exon 2 creating cryptic
Description splice site
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
DB CrossRef SH2D1Abase; A0016
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58502
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 500
Feature /codon: gag -> gat; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 67
Feature /change: E -> D
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0014 brother
Relative SH2D1A; A0015 brother
//
ID SH2D1A_T68I(1); standard; MUTATION; SH2
Accession A0498
Original code 8
Description Missense mutation in the exon 3 leading to amino acid
Description change in SH2 domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
DB CrossRef SH2D1Abase; A0017
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62855
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 502
Feature /codon: aca -> ata; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 68
Feature /change: T -> I
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history De novo
//
ID SH2D1A_Y76X(1); standard; MUTATION;
Accession A0499
Original code HLH-MP
Description Nonsense mutation in the exon 3
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11159547
RefAuthors Arico, M., Imashuku, S., Clementi, R., Hibi, S, Teramura,
RefAuthors T., damesino, C., Haber, D. A. and Nichols, K. E.
RefTitle Hemophagocytic lymphohistiocytic due to germline mutations
RefTitle in SH2D1A, the X-linked lymphoproliferative disease
RefTitle gene
RefLoc Blood, 97: 1131-1133 (2001)
DB CrossRef SH2D1Abase; A0085
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62880
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 527
Feature /codon: tat -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 76
Feature /change: Y -> X
Symptoms Classical XLP
Protein struct Premature stop
Sex XY
Ethnic origin italy
Family history Sporadic
Comment -!-Symptoms: hemophagocytic lymphocytosis
//
ID SH2D1A_Y76X(2); standard; MUTATION; SH2
Accession A0500
Systematic name g.62880T>A, c.228T>A, r.228u>a, p.Tyr76X
Original code HLH-MP
Description A point mutation in the exon 3 leading to a premature stop
Description codon in the SH2 domain
Date 05-Mar-2007 (Rel. 1, Created)
Date 05-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11159547
RefAuthors Arico, M., Imashuku, S., Clementi, R., Hibi, S., Teramura,
RefAuthors T., Danesino, C., Haber, D. A., Nichols, K. E.
RefTitle Hemophagocytic lymphohistiocytosis due to germline
RefTitle mutations in SH2D1A, the X-linked lymphoproliferative
RefTitle disease gene.
RefLoc Blood:1131-1133 (2001)
DB CrossRef SH2D1Abase; A0116
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62880
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 527
Feature /codon: tat -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 76
Feature /change: Y -> X
Feature /domain: SH2
Diagnosis Hemophagocytic lymphohistiocytosis (HLH)
Sex XY
Ethnic origin Italy
//
ID SH2D1A_#I80X94(1); standard; MUTATION; SH2
Accession A0501
Original code 02
Description Frameshift deletion in the exon 3
Date 11-Jan-2000 (Rel. 1, Created)
Date 11-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
DB CrossRef SH2D1Abase; A0030
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62891..62894
Feature /change: -taaa
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 538..541
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 80..81
Feature /change: IK -> KISFQHFRSQ IKAFX
Symptoms Classical XLP
Date of birth 1985
Sex XY
Family history Sporadic
Comment -!-Symptoms: hypogammaglobulinemia, infectious mononucleosis,
Comment -!-Symptoms: EBV serology, anemia
//
ID SH2D1A_@N82X103(1); standard; MUTATION; SH2
Accession A0502
Systematic name g.62897dupA, c.245dupA, r.245dupa, p.Asn82fsX21
Description A frame shift duplication mutation in the exon 3 leading to
Description a premature stop codon in the SH2 domain
Date 02-Mar-2007 (Rel. 1, Created)
Date 02-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
DB CrossRef SH2D1Abase; A0108
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0078: 62898
Feature /change: +a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 545
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: SH21A_HUMAN: 82
Feature /change: N -> KSHFSISEAR SRHCNTSAVS SX
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
//
ID SH2D1A_#L83X100(1a); standard; MUTATION; SH2
Accession A0503
Original code AB
Description Frameshift deletion in the exon 3
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
DB CrossRef SH2D1Abase; A0100
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62901..62908
Feature /change: -catttcag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 548..555
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 83..86
Feature /change: LISA -> LISEARSRHC NTSAVSSX
Symptoms Classical XLP
Protein struct Large deletion
Relative SH2D1A; A0101 brother
Relative SH2D1A; A0102 cousin
Relative SH2D1A; A0103 cousin
Relative SH2D1A; A0104 cousin
Comment -!-Family history: an affected cousin died of
Comment -!-Family history: fulminant mononucleosis
Comment -!-Family history: mother and her sister carriers
Comment -!-Symptoms: pneumonia and Escherichia coli sepsis
Comment -!-Symptoms: at 1 year, under intravenous
Comment -!-Clinical history: immunoglobulin treatment
//
ID SH2D1A_#L83X100(1b); standard; MUTATION; SH2
Accession A0504
Original code AC
Description Frameshift deletion in the exon 3
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
DB CrossRef SH2D1Abase; A0101
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62901..62908
Feature /change: -catttcag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 548..555
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 83..86
Feature /change: LISA -> LISEARSRHC NTSAVSSX
Symptoms Classical XLP
Protein struct Large deletion
Relative SH2D1A; A0100 brother
Relative SH2D1A; A0102 cousin
Relative SH2D1A; A0103 cousin
Relative SH2D1A; A0104 cousin
Comment -!-Family history: an affected cousin died of
Comment -!-Family history: fulminant mononucleosis
Comment -!-Family history: mother and her sister carriers
Comment -!-Symptoms: pneumonia and agammaglobulinemia developed
Comment -!-Symptoms: at 10 months, under intravenous
Comment -!-Clinical history: immunoglobulin treatment
//
ID SH2D1A_#L83X100(1c); standard; MUTATION; SH2
Accession A0505
Original code BB
Description Frameshift deletion in the exon 3
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
DB CrossRef SH2D1Abase; A0102
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62901..62908
Feature /change: -catttcag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 548..555
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 83..86
Feature /change: LISA -> LISEARSRHC NTSAVSSX
Symptoms Classical XLP
Protein struct Large deletion
Relative SH2D1A; A0100 cousin
Relative SH2D1A; A0101 cousin
Relative SH2D1A; A0103 brother
Relative SH2D1A; A0104 brother
Comment -!-Family history: an affected brother died of
Comment -!-Family history: fulminant mononucleosis
Comment -!-Family history: mother and her sister carriers
Comment -!-Symptoms: died of fulminant infectious
Comment -!-Symptoms: mononucleosis
//
ID SH2D1A_#L83X100(1d); standard; MUTATION; SH2
Accession A0506
Original code BC
Description Frameshift deletion in the exon 3
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
DB CrossRef SH2D1Abase; A0103
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62901..62908
Feature /change: -catttcag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 548..555
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 83..86
Feature /change: LISA -> LISEARSRHC NTSAVSSX
Symptoms Classical XLP
Protein struct Large deletion
Relative SH2D1A; A0100 cousin
Relative SH2D1A; A0101 cousin
Relative SH2D1A; A0102 brother
Relative SH2D1A; A0104 brother
Comment -!-Family history: an affected brother died of
Comment -!-Family history: fulminant mononucleosis
Comment -!-Family history: mother and her sister carriers
Comment -!-Symptoms: fulminant infectious mononucleosis, was
Comment -!-Symptoms: treated with methylprednisolone and VP-16
Comment -!-Symptoms: died before bone marrow transplantation
//
ID SH2D1A_#L83X100(1e); standard; MUTATION; SH2
Accession A0507
Original code BD
Description Frameshift deletion in the exon 3
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11520777
RefAuthors Morra, M., Silander, O., Calpe, S., Choi, M.,
RefAuthors Oettgen, H., Myers, L., Etzioni, A., Buckley, R.,
RefAuthors Terhorst, C.
RefTitle Alterations of the X-linked lymphoproliferative
RefTitle disease gene SH2D1A in common variable
RefTitle immunodeficiency syndrome
RefLoc Blood 98: 1321-1325 (2001)
DB CrossRef SH2D1Abase; A0104
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62901..62908
Feature /change: -catttcag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 548..555
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 83..86
Feature /change: LISA -> LISEARSRHC NTSAVSSX
Symptoms Classical XLP
Protein struct Large deletion
Relative SH2D1A; A0099 cousin
Relative SH2D1A; A0100 cousin
Relative SH2D1A; A0101 cousin
Relative SH2D1A; A0102 brother
Relative SH2D1A; A0103 brother
Comment -!-Family history: an affected brother died of
Comment -!-Family history: fulminant mononucleosis
Comment -!-Family history: mother and her sister carriers
Comment -!-Symptoms: bone marrow transplantation from a
Comment -!-Symptoms: sister, no complications during of after
Comment -!-Symptoms: transplantation
//
ID SH2D1A_I84T(1a); standard; MUTATION; SH2
Accession A0508
Systematic name g.62903T>C, c.251T>C, r.251u>c, p.Ile84Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 06-Mar-2007 (Rel. 1, Created)
Date 06-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
DB CrossRef SH2D1Abase; A0124
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62903
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 550
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 84
Feature /change: I -> T
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0125
Relative SH2D1Abase; A0126
Relative SH2D1Abase; A0127
Relative SH2D1Abase; A0128
Relative SH2D1Abase; A0129
//
ID SH2D1A_I84T(1b); standard; MUTATION; SH2
Accession A0509
Systematic name g.62903T>C, c.251T>C, r.251u>c, p.Ile84Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 06-Mar-2007 (Rel. 1, Created)
Date 06-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
DB CrossRef SH2D1Abase; A0125
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62903
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 550
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 84
Feature /change: I -> T
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0124
Relative SH2D1Abase; A0126
Relative SH2D1Abase; A0127
Relative SH2D1Abase; A0128
Relative SH2D1Abase; A0129
//
ID SH2D1A_I84T(1c); standard; MUTATION; SH2
Accession A0510
Systematic name g.62903T>C, c.251T>C, r.251u>c, p.Ile84Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 06-Mar-2007 (Rel. 1, Created)
Date 06-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
DB CrossRef SH2D1Abase; A0126
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62903
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 550
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 84
Feature /change: I -> T
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0124
Relative SH2D1Abase; A0125
Relative SH2D1Abase; A0127
Relative SH2D1Abase; A0128
Relative SH2D1Abase; A0129
//
ID SH2D1A_I84T(1d); standard; MUTATION; SH2
Accession A0511
Systematic name g.62903T>C, c.251T>C, r.251u>c, p.Ile84Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 06-Mar-2007 (Rel. 1, Created)
Date 06-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
DB CrossRef SH2D1Abase; A0127
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62903
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 550
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 84
Feature /change: I -> T
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0124
Relative SH2D1Abase; A0125
Relative SH2D1Abase; A0126
Relative SH2D1Abase; A0128
Relative SH2D1Abase; A0129
//
ID SH2D1A_I84T(1e); standard; MUTATION; SH2
Accession A0512
Systematic name g.62903T>C, c.251T>C, r.251u>c, p.Ile84Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 06-Mar-2007 (Rel. 1, Created)
Date 06-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
DB CrossRef SH2D1Abase; A0128
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62903
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 550
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 84
Feature /change: I -> T
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0124
Relative SH2D1Abase; A0125
Relative SH2D1Abase; A0126
Relative SH2D1Abase; A0127
Relative SH2D1Abase; A0129
//
ID SH2D1A_I84T(1f); standard; MUTATION; SH2
Accession A0513
Systematic name g.62903T>C, c.251T>C, r.251u>c, p.Ile84Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 06-Mar-2007 (Rel. 1, Created)
Date 06-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
DB CrossRef SH2D1Abase; A0129
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62903
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 550
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 84
Feature /change: I -> T
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0124
Relative SH2D1Abase; A0125
Relative SH2D1Abase; A0126
Relative SH2D1Abase; A0127
Relative SH2D1Abase; A0128
//
ID SH2D1A_F87S(1); standard; MUTATION; SH2
Accession A0514
Description Missense mutation in the exon 3
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0069
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62912
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 559
Feature /codon: ttt -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 87
Feature /change: F -> S
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K082
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID SH2D1A_F87S(2a); standard; MUTATION; SH2
Accession A0515
Systematic name g.62912T>C, c.260T>C, r.260u>c, p.Phe87Ser
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 01-Mar-2007 (Rel. 1, Created)
Date 01-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
DB CrossRef SH2D1Abase; A0106
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62912
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 559
Feature /codon: ttt -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 87
Feature /change: F -> S
Feature /domain: SH2
Protein level Absent
Protein struct reduced half-life
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0107
Comment The mutated protein was not able to associate with SLAM or
Comment 2B4, binding to CD84 partially reduced
//
ID SH2D1A_F87S(2b); standard; MUTATION; SH2
Accession A0516
Systematic name g.62912T>C, c.260T>C, r.260u>c, p.Phe87Ser
Description A point mutation in the exon 3 leading to an amino acid
Description change in the SH2 domain
Date 01-Mar-2007 (Rel. 1, Created)
Date 01-Mar-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16720617
RefAuthors Hare, N. J., Ma, C. S., Alvaro, F., Nichols, K. E.,
RefAuthors Tangye, S. G.
RefTitle Missense mutations in SH2D1A identified in patients with X-
RefTitle linked lymphoproliferative disease differentially affect
RefTitle the expression and function of SAP.
RefLoc Int Immunol:1055-1065 (2006)
DB CrossRef SH2D1Abase; A0107
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62912
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:312466; HSATK: 559
Feature /codon: ttt -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: SH21A_HUMAN: 87
Feature /change: F -> S
Feature /domain: SH2
Protein level Absent
Protein struct reduced half-life
Diagnosis X-linked lymphoproliferative syndrome
Family history Inherited
Relative SH2D1Abase; A0106
Comment The mutated protein was not able to associate with SLAM or
Comment 2B4, binding to CD84 partially reduced
//
ID SH2D1A_#V95X117(1); standard; MUTATION; SH2
Accession A0517
Original code 5
Description Frameshift deletion in the exon 3
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
DB CrossRef SH2D1Abase; A0095
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62937
Feature /change: -a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0078: 584
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 95
Feature /change: V -> VYLCSIQLRR SPQLEVHKVL QGX
Protein struct Large deletion
Symptoms Classical XLP
Family history Sporadic
Ethnic origin Japanese
Comment -!-Clinical history: died after 34 days
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID SH2D1A_Q99P(1); standard; MUTATION; SH2
Accession A0518
Description Missense mutation in the exon 3
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0070
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62948
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 595
Feature /codon: cag -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 99
Feature /change: Q -> P
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: 16 other affected males in the K002
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID SH2D1A_Y100X(1a); standard; MUTATION; SH2
Accession A0519
Original code 03a
Description Nonsense mutation in the exon 3
Date 11-Jan-2000 (Rel. 1, Created)
Date 11-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
DB CrossRef SH2D1Abase; A0031
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62952
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 599
Feature /codon: tat -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 100
Feature /change: Y -> X
Symptoms Classical XLP
Sex XY
Ethnic origin spain
Age at death 5; Cause: infectious mononucleosis
Family history Inherited
Relative SH2D1A; A0032 brother
Comment -!-Family history: 4 brothers with fatal infectious
Comment -!-Family history: mononucleosis
Comment -!-Symptoms: infectious mononucleosis, EBV serology
//
ID SH2D1A_Y100X(1b); standard; MUTATION; SH2
Accession A0520
Original code 03b
Description Nonsense mutation in the exon 3
Date 11-Jan-2000 (Rel. 1, Created)
Date 11-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
DB CrossRef SH2D1Abase; A0032
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62952
Feature /change: t -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0078: 599
Feature /codon: tat -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 100
Feature /change: Y -> X
Symptoms Classical XLP
Sex XY
Ethnic origin spain
Family history Inherited
Relative SH2D1A; A0031 brother
Comment -!-Family history: 4 brothers with fatal infectious
Comment -!-Family history: mononucleosis
Comment -!-Symptoms: infectious mononucleosis, EBV serology,
Comment -!-Symptoms: elevated IgM dysgammaglobulinemia
Comment -!-Symptoms: stem cell transplantation planned
//
ID SH2D1A_P101L(1); standard; MUTATION; SH2
Accession A0521
Original code 7
Description Point mutation in the exon 3 leading to amino acid change
Description in the SH2 domain
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9771704
RefAuthors Coffey, A.J., Brooksbank, R.A., Brandau, O., Oohashi, T.,
RefAuthors Howell, G.R., Bye, J.M., Cahn, A.P., Durham, J., Heath,
RefAuthors P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M.,
RefAuthors Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S.,
RefAuthors Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B.,
RefAuthors Zollo, M., Franco, B., Bolino, A., Seri, A., Lanyi, A.,
RefAuthors Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St
RefAuthors Basile, G., Jones, A., Behloradsky, B.H., Achhatz, H.,
RefAuthors Murgen, J., Fassler, R., Sumegi, J., Romeo, G., Vaudin,
RefAuthors M., Ross, M.T., Meindl, A., Bentley, D.R.
RefTitle Host response to EBV infection in X-linked
RefTitle lymphoproliferative disease results from mutations in an
RefTitle SH2-domain encoding gene
RefLoc Nature Genetics 20:129-135 (1998)
DB CrossRef SH2D1Abase; A0018
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62954
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AL023657; GI:3153107; HSDSHP: 601
Feature /codon: cca -> cta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 101
Feature /change: P -> L
Feature /domain: SH2
Symptoms Classical XLP
Sex XY
Family history De novo
//
ID SH2D1A_V102G(1); standard; MUTATION; SH2
Accession A0522
Description Missense mutation in the exon 3
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
DB CrossRef SH2D1Abase; A0071
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62957
Feature /change: t -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0078: 604
Feature /codon: gtt -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60880; SH21A_HUMAN: 102
Feature /change: V -> G
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Family history: an affected male in the K062
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID SH2D1A_Intron 1(1); standard; MUTATION; SH2
Accession A0523
Original code A1; IARC724
Description Point mutation in the intron 1 leading to deletion of
Description exon 2 or exon 2 and part of the exon 3
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9774102
RefAuthors Sayos, J., Wu, C., Morra, M., Wang, N., Zhang, X., Allen,
RefAuthors D., van Schaik, S., Notarangelo, L., Geha, R., Roncarolo,
RefAuthors M.G., Oettgen, H., De Vries, J.E., Aversa, G., Terhorst,
RefAuthors C.
RefTitle The X-linked lymphoproliferative-disease gene product SAP
RefTitle regulates signals induced through the co-receptor SLAM
RefTitle Nature 395:462-469 (1998)
RefNumber [2]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
DB CrossRef SH2D1Abase; A0001
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58436
Feature /change: c -> g
Feature /genomic_region: intron; 1
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58436
Feature /change: c -> g
Feature /genomic_region: intron; 1
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: loss of exon sequence; frameshift
Feature /loc: EMBL: AL023657; GI:3153107 HSDSHP: 437..500
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgag
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: loss of exon sequence; frameshift
Feature /loc: EMBL: AL023657; GI:3153107 HSDSHP: 437..555
Feature /change: -gtatcacggt tacatttata cataccgagt gtcccagaca
Feature /change: gaaacaggtt cttggagtgc tgaggtatca cggttacatt
Feature /change: tatacatacc gagtgtccca gacagaaaca ggttcttgga
Feature /change: gtgctgagac agcacctggg gtacataaaa gatatttccg
Feature /change: gaaaataaaa aatctcattt cag
Feature aa; 5
Feature /rnalink: 3
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 47
Feature /change: Y -> QHLGYIKDISGKX
Feature /domain: SH2
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O60880; SH21A_HUMAN: 47
Feature /change: Y -> ISEARYRHCNTSAVSSX
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: hypogammaglobulinemia, recurrent pulmonary
Comment -!-Symptoms: infections, severe EBV-induced mononcleosis
//
ID SH2D1A_Intron 1(2); standard; MUTATION; SH2
Accession A0524
Original code 01
Description Point mutation affecting intron 1
Date 14-Dec-1999 (Rel. 1, Created)
Date 14-Dec-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
DB CrossRef SH2D1Abase; A0033
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39458
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Age 10
Family history Inherited
Comment -!-Family history: 2 brothers with fatal infectious
Comment -!-Family history: mononucleosis
Comment -!-Symptoms: infectious mononucleosis, EBV serology,
Comment -!-Symptoms: anemia, hypogammaglobulinemia, stable under
Comment -!-Symptoms: i.v. immunoglobulins
//
ID SH2D1A_Intron 1(3); standard; MUTATION; SH2
Accession A0525
Original code IARC1424
Description Point mutation affecting intron 1
Date 14-Dec-1999 (Rel. 1, Created)
Date 14-Dec-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
DB CrossRef SH2D1Abase; A0041
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 39458
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Family history Inherited
//
ID SH2D1A_Intron 1(5); standard; MUTATION; SH2
Accession A0526
Systematic name g.IVS1-2A>C, c.138-2A>C, r.
Original code P1
Description A point mutation in the intron 1 leading to aberrant
Description splicing of exon 2
Date 13-Jun-2007 (Rel. 1, Created)
Date 13-Jun-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632210
RefAuthors Tabata, Y., Villanueva, J., Lee, S. M., Zhang, K.,
RefAuthors Kanegane, H., Miyawaki, T., Sumegi, J., Filipovich, A. H.
RefTitle Rapid detection of intracellular SH2D1A protein in
RefTitle cytotoxic lymphocytes from patients with X-linked
RefTitle lymphoproliferative disease and their family members.
RefLoc Blood:3066-3071 (2005)
DB CrossRef SH2D1Abase; A0133
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58437
Feature /change: a -> c
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Age 0.5
Family history Inherited
//
ID SH2D1A_Intron 1(6); standard; MUTATION; SH2
Accession A0527
Systematic name g.IVS1-2A>G, c.138-2A>G, r.
Original code P3
Description A point mutation in the intron 1 leading to aberrant
Description splicing of exon 2
Date 13-Jun-2007 (Rel. 1, Created)
Date 13-Jun-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632210
RefAuthors Tabata, Y., Villanueva, J., Lee, S. M., Zhang, K.,
RefAuthors Kanegane, H., Miyawaki, T., Sumegi, J., Filipovich, A. H.
RefTitle Rapid detection of intracellular SH2D1A protein in
RefTitle cytotoxic lymphocytes from patients with X-linked
RefTitle lymphoproliferative disease and their family members.
RefLoc Blood:3066-3071 (2005)
DB CrossRef SH2D1Abase; A0134
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58437
Feature /change: a -> g
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein level Much reduced
Diagnosis X-linked lymphoproliferative syndrome
Symptoms Hypogammaglobulinemia
Age 12
//
ID SH2D1A_Intron 2(1a); standard; MUTATION; SH2
Accession A0528
Original code 09a
Description Point mutation affecting intron 2
Date 14-Dec-1999 (Rel. 1, Created)
Date 14-Dec-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
DB CrossRef SH2D1Abase; A0034
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62853
Feature /change: g -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0035; brother
Comment -!-Symptoms: infectious mononucleosis, EBV serology,
Comment -!-Symptoms: anemia dysgammaglobulinemia, died at the age
Comment -!-Symptoms: of one after chemotherapy for
Comment -!-Symptoms: virus-associated haemophagocytic syndrome
//
ID SH2D1A_Intron 2(1b); standard; MUTATION; SH2
Accession A0529
Original code 09b
Description Point mutation affecting intron 2
Date 14-Dec-1999 (Rel. 1, Created)
Date 14-Dec-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10556288
RefAuthors Brandau, O., Schuster, V., Weiss, M., Hellebrand, H.,
RefAuthors Fink, F.M., Kreczy, A., Friedrich, W., Strahm, B.,
RefAuthors Niemeyer, C., Belohradsky, B.H., Meindl, A.
RefTitle Epstein-barr virus-negative boys with non-hodgkin
RefTitle lymphoma are mutated in the SH2D1A gene, as are patients
RefTitle with X-linked lymphoproliferative disease (XLP)
RefLoc Human Molecular Genetics 8:2407-2413 (1999)
DB CrossRef SH2D1Abase; A0035
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 62853
Feature /change: g -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Age 2
Family history Inherited
Relative SH2D1A; A0034; brother
Comment -!-Symptoms: anemia, dysgammaglobulinemia, stable under
Comment -!-Symptoms: chemotherapy NHL lymphoma
//
ID SH2D1A_Intron 2(2); standard; MUTATION; SH2
Accession A0530
Original code XLP-K
Description Point mutation affecting intron 2
Date 14-Dec-1999 (Rel. 1, Created)
Date 14-Dec-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
DB CrossRef SH2D1Abase; A0042
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58503
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein struct Splice defect
Symptoms Classical XLP
Sex XY
Family history Inherited
//
ID SH2D1A_Intron 2(3); standard; MUTATION; SH2
Accession A0531
Systematic name g.IVS2+3A>G, c.201+3A>G, r.201+3a>g
Original code P4
Description A point mutation in the intron 2 leading to aberrant
Description splicing of exon 2
Date 13-Jun-2007 (Rel. 1, Created)
Date 13-Jun-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15632210
RefAuthors Tabata, Y., Villanueva, J., Lee, S. M., Zhang, K.,
RefAuthors Kanegane, H., Miyawaki, T., Sumegi, J., Filipovich, A. H.
RefTitle Rapid detection of intracellular SH2D1A protein in
RefTitle cytotoxic lymphocytes from patients with X-linked
RefTitle lymphoproliferative disease and their family members.
RefLoc Blood:3066-3071 (2005)
DB CrossRef SH2D1Abase; A0135
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0078: 58505
Feature /change: a -> g
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Protein level Reduced
Diagnosis X-linked lymphoproliferative syndrome
Age 23
Comment 2 differently spliced transcripts detected in patient T
Comment cells. Significantly decreased SAP expression in CD56+ T
Comment cells and NK cells but a small positive peak in CD8+ T
Comment cells.
//
ID SH2D1A_Intron 2(4); standard; MUTATION; SH2
Accession A0532
Systematic name g.IVS2-1G>, c.202-1G>, r.202_204del
Original code HX
Description A deletion in the intron 2 leading to aberrant splicing
Date 13-Jun-2007 (Rel. 1, Created)
Date 13-Jun-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12224001
RefAuthors Parolini, O., Kagerbauer, B., Simonitsch-Klupp, I.,
RefAuthors Ambros, P., Jaeger, U., Mann, G., Haas, O. A., Morra, M.,
RefAuthors Gadner, H., Terhorst, C., Knapp, W., Holter, W.
RefTitle Analysis of SH2D1A mutations in patients with severe
RefTitle epstein-barr virus infections, burkitt's lymphoma, and
RefTitle hodgkin's lymphoma.
RefLoc Ann Hematol:441-447 (2002)
DB CrossRef SH2D1Abase; A0136
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 62853
Feature /change: -g
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
Diagnosis X-linked lymphoproliferative syndrome
Symptoms Infectious mononucleosis
Sex XY
Family history Inherited
//
ID SH2D1A_Intron 3(2); standard; MUTATION; SH2
Accession A0533
Systematic name g.IVS3-32ATTTT>, c.347-32ATTTT>, r.347-32_347-1ins
Original code P6
Description A deletion in the intron 3 leading to an amino acid change
Description in the SH2 domain
Date 13-Jun-2007 (Rel. 1, Created)
Date 13-Jun-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10898506
RefAuthors Gilmour, K. C., Cranston, T., Jones, A., Davies, E. G.,
RefAuthors Goldblatt, D., Thrasher, A., Kinnon, C., Nichols, K. E.,
RefAuthors Gaspar, H. B.
RefTitle Diagnosis of X-linked lymphoproliferative disease by
RefTitle analysis of SLAM-associated protein expression.
RefLoc Eur J Immunol:1691-1697 (2000)
DB CrossRef SH2D1Abase; A0132
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0078: 63997..64001
Feature /change: -atttt
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -32
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: SH2
mRNA level Absent
Protein level Absent
Diagnosis Atypical phenotype
Symptoms Hypogammaglobulinemia, variable B and T cell abnormalities
Sex XY
Family history De novo
Comment The deletion is suggested to affect the splicing branch
Comment point and lead to an unstable mRNA product resulting in
Comment lack of SAP expression
//
ID SH2D1A_Deletion (1a); standard; MUTATION; GROSS
Accession A0534
Original code B1
Description Deletion of the entire SH2D1A
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9774102
RefAuthors Sayos, J., Wu, C., Morra, M., Wang, N., Zhang, X., Allen,
RefAuthors D., van Schaik, S., Notarangelo, L., Geha, R., Roncarolo,
RefAuthors M.G., Oettgen, H., De Vries, J.E., Aversa, G., Terhorst,
RefAuthors C.
RefTitle The X-linked lymphoproliferative-disease gene product SAP
RefTitle regulates signals induced through the co-receptor SLAM
RefTitle Nature 395:462-469 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Age 23
Family history Inherited
Relative SH2D1A; A0003; brother
Comment -!-Family history: also a healthy brother and two other
Comment -!-Family history: brothers with classical XLP
Comment -!-Symptoms: dysgammaglobulinemia with raised IgA and IgM,
Comment -!-Symptoms: pulmonary infections, pneumonia, hilar
Comment -!-Symptoms: adenopathy which progressed to fulminant
Comment -!-Symptoms: infectious mononucleosis with
Comment -!-Symptoms: haemophagocytosis, EBV-infection, depressed
Comment -!-Symptoms: T-cell proliferative responses to mitogens
//
ID SH2D1A_Deletion (1b); standard; MUTATION; GROSS
Accession A0535
Original code B2
Description Deletion of the entire SH2D1A
Date 10-Jun-1999 (Rel. 1, Created)
Date 10-Jun-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9774102
RefAuthors Sayos, J., Wu, C., Morra, M., Wang, N., Zhang, X., Allen,
RefAuthors D., van Schaik, S., Notarangelo, L., Geha, R., Roncarolo,
RefAuthors M.G., Oettgen, H., De Vries, J.E., Aversa, G., Terhorst,
RefAuthors C.
RefTitle The X-linked lymphoproliferative-disease gene product SAP
RefTitle regulates signals induced through the co-receptor SLAM
RefTitle Nature 395:462-469 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0002; brother
Comment -!-Family history: also a healthy brother and two other
Comment -!-Family history: brothers with classical XLP
Comment -!-Symptoms: pancytopaenia, splenomegaly,
Comment -!-Symptoms: dysgammaglobulinemia, depressed T-cell
Comment -!-Symptoms: proliferative responses to mitogens
//
ID SH2D1A_Deletion (2); standard; MUTATION; GROSS
Accession A0536
Original code A
Description Deletion of 3 Mb spanning the entire XLP locus
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: fulminant IM, EBV-associated lymphoma
Comment -!-Symptoms: or hypogammaglobulinemia
//
ID SH2D1A_Deletion (3); standard; MUTATION; GROSS
Accession A0537
Original code R
Description Deletion of 200 kb after exon 1
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: fulminant IM, EBV-associated lymphoma
Comment -!-Symptoms: or hypogammaglobulinemia
//
ID SH2D1A_Deletion (4a); standard; MUTATION; GROSS
Accession A0538
Original code AD
Description Deletion of 200 kb leading to deletion of the entire
Description SH2D1A gene
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0011; brother
Relative SH2D1A; A0012; brother
Comment -!-Symptoms: fulminant IM, EBV-associated lymphoma
Comment -!-Symptoms: or hypogammaglobulinemia
//
ID SH2D1A_Deletion (4b); standard; MUTATION; GROSS
Accession A0539
Description Deletion of 200 kb leading to deletion of the entire
Description SH2D1A gene
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0010 brother
Relative SH2D1A; A0012 brother
Comment -!-Symptoms: atypival lymphoproliferative process with
Comment -!-Symptoms: infiltration of lungs, liver, spleen and
Comment -!-Symptoms: colon
//
ID SH2D1A_Deletion (4c); standard; MUTATION; GROSS
Accession A0540
Description Deletion of 200 kb leading to deletion of the entire
Description SH2D1A gene
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9811875
RefAuthors Nichols, K.E., Harkin, D.P., Levitz, S., Krainer, M.,
RefAuthors Kolquist, K.A., Genovese, C., Bernard, A., Ferguson, M.,
RefAuthors Zuo, L., Snyder, E., Buckler, A.J., Wise, C., Ashley, J.,
RefAuthors Lovett, M., Valentine, M.B., Look, A.T., Gerald, W.,
RefAuthors Housman, D.E., Haber, D.A.
RefTitle Inactivating mutations in an SH2 domain-encoding gene in
RefTitle X-linked lymphoproliferative syndrome
RefLoc Proc. Natl. Acad. Sci. USA 95:13765-13770 (1998)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Relative SH2D1A; A0010 brother
Relative SH2D1A; A0011 brother
Comment -!-Symptoms: atypical pulmonary infiltrate resembling
Comment -!-Symptoms: Wegener's granulomamosis
//
ID SH2D1A_Deletion (5); standard; MUTATION; GROSS
Accession A0541
Original code 30-011
Description Deletion of 250 kb leading to deletion of the entire
Description SH2D1A gene
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9027486
RefAuthors Lanyi, A., Li, B., Li, S., Talmadge, C.B., Brichacek, B.,
RefAuthors Davis, J.R., Kozel, B.A., Trask, B., van den Engh, G.,
RefAuthors Uzvolgyi, E., Stanbridge, E.J., Nelson, D.L., Chinault,
RefAuthors C., Heslop, H., Gross, T.G., Seemayer, T.A., Klein, G.,
RefAuthors Purtilo, D.T., Sumegi, J.
RefTitle A yeast artificial chromosome (YAC) contig encompassing
RefTitle the critical region of the X-linked lymphoproliferative
RefTitle disease (XLP) locus
RefLoc Genomics 39:55-65 (1997)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: malignant lymphoma, hypogammaglobulinemia
//
ID SH2D1A_Deletion (6); standard; MUTATION; GROSS
Accession A0542
Original code 43-004
Description Deletion of 3 Mb leading to deletion of the entire XLP
Description locus
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9027486
RefAuthors Lanyi, A., Li, B., Li, S., Talmadge, C.B., Brichacek, B.,
RefAuthors Davis, J.R., Kozel, B.A., Trask, B., van den Engh, G.,
RefAuthors Uzvolgyi, E., Stanbridge, E.J., Nelson, D.L., Chinault,
RefAuthors C., Heslop, H., Gross, T.G., Seemayer, T.A., Klein, G.,
RefAuthors Purtilo, D.T., Sumegi, J.
RefTitle A yeast artificial chromosome (YAC) contig encompassing
RefTitle the critical region of the X-linked lymphoproliferative
RefTitle disease (XLP) locus
RefLoc Genomics 39:55-65 (1997)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: malignant lymphoma, hypogammaglobulinemia
//
ID SH2D1A_Deletion (7); standard; MUTATION; GROSS
Accession A0543
Original code 63-003
Description Deletion of 3 Mb leading to deletion of the entire XLP
Description locus
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9027486
RefAuthors Lanyi, A., Li, B., Li, S., Talmadge, C.B., Brichacek, B.,
RefAuthors Davis, J.R., Kozel, B.A., Trask, B., van den Engh, G.,
RefAuthors Uzvolgyi, E., Stanbridge, E.J., Nelson, D.L., Chinault,
RefAuthors C., Heslop, H., Gross, T.G., Seemayer, T.A., Klein, G.,
RefAuthors Purtilo, D.T., Sumegi, J.
RefTitle A yeast artificial chromosome (YAC) contig encompassing
RefTitle the critical region of the X-linked lymphoproliferative
RefTitle disease (XLP) locus
RefLoc Genomics 39:55-65 (1997)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: malignant lymphoma, hypogammaglobulinemia
//
ID SH2D1A_Deletion (8); standard; MUTATION; GROSS
Accession A0544
Original code 73-032
Description Deletion of 3 Mb leading to deletion of the entire XLP
Description locus
Date 16-Nov-1999 (Rel. 1, Created)
Date 16-Nov-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9027486
RefAuthors Lanyi, A., Li, B., Li, S., Talmadge, C.B., Brichacek, B.,
RefAuthors Davis, J.R., Kozel, B.A., Trask, B., van den Engh, G.,
RefAuthors Uzvolgyi, E., Stanbridge, E.J., Nelson, D.L., Chinault,
RefAuthors C., Heslop, H., Gross, T.G., Seemayer, T.A., Klein, G.,
RefAuthors Purtilo, D.T., Sumegi, J.
RefTitle A yeast artificial chromosome (YAC) contig encompassing
RefTitle the critical region of the X-linked lymphoproliferative
RefTitle disease (XLP) locus
RefLoc Genomics 39:55-65 (1997)
Protein struct Large deletion
Symptoms Classical XLP
Sex XY
Family history Inherited
Comment -!-Symptoms: malignant lymphoma, hypogammaglobulinemia
//
ID SH2D1A_Deletion (9); standard; MUTATION; GROSS
Accession A0545
Original code IARC739
Description Deletion of the whole gene
Date 12-Jan-2000 (Rel. 1, Created)
Date 12-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
Protein struct Large deletion
Symptoms Classical XLP
Protein struct large deletion
Sex XY
Family history Inherited
//
ID SH2D1A_Deletion (10); standard; MUTATION; GROSS
Accession A0546
Original code XLP-G
Description Deletion of the whole gene
Date 12-Jan-2000 (Rel. 1, Created)
Date 12-Jan-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10598819
RefAuthors Yin, L., Ferrand, V., Lavou�, M-F., Hayoz, D., Philipe, N.,
RefAuthors Souillet, G., Seri, M., Giacchino, R., Castagnola, E.,
RefAuthors Hodgson, S., Sylla B.S., Romeo, G.
RefTitle SH2D1A mutation analysis for diagnosis of XLP in typical
RefTitle and atypical patients
RefLoc Human Genetics 105:501-505 (1999)
Protein struct Large deletion
Symptoms Classical XLP
Protein struct large deletion
Sex XY
Family history Inherited
//
ID SH2D1A_Deletion (11); standard; MUTATION; GROSS
Accession A0547
Description 3.5 Mb DNA deletion at Xq25 including SH2D1A gene
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: an affected male in the K043
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: dysgammaglobulinemia
//
ID SH2D1A_Deletion (12); standard; MUTATION; GROSS
Accession A0548
Description 3.5 Mb DNA deletion at Xq25 including SH2D1A gene
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 3 other affected males in the K063
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis
Comment -!-Symptoms: lymphoproliferative disorders
//
ID SH2D1A_Deletion (13); standard; MUTATION; GROSS
Accession A0549
Description 3.5 Mb DNA deletion at Xq25 including SH2D1A gene
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 3 other affected males in the K073
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID SH2D1A_Deletion (14); standard; MUTATION; GROSS
Accession A0550
Description Deletion of the 1-4 exons
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the Ado1
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID SH2D1A_Deletion (15); standard; MUTATION; GROSS
Accession A0551
Description Deletion of the 1-4 exons
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 2 other affected males in the K051
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: dysgammaglobulinemia
//
ID SH2D1A_Deletion (16); standard; MUTATION; GROSS
Accession A0552
Description Deletion of 89 bp from the intron 1 and deletion of exon 2 and
Description intron 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 4 other affected males in the K055
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: aplastic anemia,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID SH2D1A_Deletion (17); standard; MUTATION; GROSS
Accession A0553
Description Deletion of 159 bp from the exon 2 at 448 and the
Description intron 2
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 3 other affected males in the K060
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID SH2D1A_Deletion (18); standard; MUTATION; GROSS
Accession A0554
Original code HLH-PZ
Description Deletion of exon 1 and part of the 5' regulatory sequences
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11159547
RefAuthors Arico, M., Imashuku, S., Clementi, R., Hibi, S, Teramura,
RefAuthors T., damesino, C., Haber, D. A. and Nichols, K. E.
RefTitle Hemophagocytic lymphohistiocytic due to germline mutations
RefTitle in SH2D1A, the X-linked lymphoproliferative disease
RefTitle gene
RefLoc Blood, 97: 1131-1133 (2001)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Ethnic origin italy
Family history Sporadic
Comment -!-Symptoms: hemophagocytic lymphocytosis
//
ID SH2D1A_Deletion (19); standard; MUTATION; GROSS
Accession A0555
Original code HLH-OT
Description Deletion of exon 1 and 5' regulatory sequences
Date 09-Jul-2001 (Rel. 2, Created)
Date 09-Jul-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11159547
RefAuthors Arico, M., Imashuku, S., Clementi, R., Hibi, S, Teramura,
RefAuthors T., damesino, C., Haber, D. A. and Nichols, K. E.
RefTitle Hemophagocytic lymphohistiocytic due to germline mutations
RefTitle in SH2D1A, the X-linked lymphoproliferative disease
RefTitle gene
RefLoc Blood, 97: 1131-1133 (2001)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Ethnic origin italy
Family history Inherited
Comment -!-Symptoms: hemophagocytic lymphocytosis
Comment -!- diagnosed brother with hemophagocytosis at 11 months
//
ID SH2D1A_Deletion (20); standard; MUTATION; GROSS
Accession A0556
Original code 4
Description Deletion of exons 1-4
Date 03-Oct-2001 (Rel. 2, Created)
Date 03-Oct-2001 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10814994
RefAuthors Honda K, Kanegane H, Eguchi M, Kimura H, Morishima T,
RefAuthors Masaki K, Tosato G, Miyawaki T, Ishii E.
RefTitle Large deletion of the X-linked lymphoproliferative disease
RefTitle gene detected by fluorescence in situ hybridization
RefLoc Am J Hematol 64:128-32 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11493483
RefAuthors Sumazaki, R., Kanegane, H., Osaki, M., Fukushima, T.,
RefAuthors Tsuchida, M., Matsukura, H., Shinozaki, K., Kimura, H.,
RefAuthors Matsui, A., Miyawaki, T.
RefTitle SH2D1A mutations in Japanese males with severe
RefTitle Epstain-Barr virus-associated illnesses
RefLoc Blood 98:1268-1270 (2001)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Ethnic origin japanese
Family history Inherited
Comment -!-Family history: carrier mother; ref [1]
Comment -!-Clinical history: died after 21 days
Comment -!-Symptoms: fulminant infectious mononucleosis
//
ID SH2D1A_Deletion (21); standard; MUTATION; SH2
Accession A0557
Original code Intron 1(5)
Description 3prime ACAGgtACCGgt causing skipping of the exon 2
Date 09-Jul-2001 (Rel. 1, Created)
Date 23-Mar-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 6 other affected males in the K008
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: lymphoproliferative disorders
//
ID SH2D1A_Deletion (22); standard; MUTATION; SH2
Accession A0558
Original code Intron 1(6)
Description 5' ctGTGA>ctGCGA truncation of protein
Date 09-Jul-2001 (Rel. 1, Created)
Date 23-Mar-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: an affected male in the K048
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: lymphoproliferative disorders
//
ID SH2D1A_Deletion (23); standard; MUTATION; SH2
Accession A0559
Original code Intron 2(3)
Description 5' agGTAT>agATAT truncation of protein
Date 09-Jul-2001 (Rel. 1, Created)
Date 23-Mar-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: 6 other affected males in the K065
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID SH2D1A_Deletion (24); standard; MUTATION; SH2
Accession A0560
Original code Intron 2(4)
Description 7 bp deletion in the first intron (intron 1?)
Date 09-Jul-2001 (Rel. 1, Created)
Date 23-Mar-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11049992
RefAuthors Sumegi, J., Huang, D., Lanyi, A., Davis, J. D., Seemayer,
RefAuthors T. A., Maeda, A., Klein, G., Seri, M., Wakiguchi, H.,
RefAuthors Purtilo, D. T. and Gross, T. G.
RefTitle Correlation of mutations of the SH2D1A gene and
RefTitle Epstein-Bar virus infection with clinical phenotype and
RefTitle outcome in X-linked lymphoproliferative
RefTitle disease
RefLoc Blood 96:3118-4125 (2000)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Comment -!-Family history: an other affected male in the K080
Comment -!-Family history: family; ref [1]
Comment -!-Symptoms: fulminant infectious mononucleosis,
Comment -!-Symptoms: dysgammaglobulinemia
//
ID SH2D1A_Deletion (25a); standard; MUTATION; GROSS
Accession A0561
Description Deletion of the exons 3-4
Date 12-Jun-2007 (Rel. 2, Created)
Date 12-Jun-2007 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12356686
RefAuthors Shinozaki, K., Kanegane, H., Matsukura, H., Sumazaki, R.,
RefAuthors Tsuchida, M., Makita, M., Kimoto, Y., Kanai, R., Tsumura,
RefAuthors K., Kondoh, T., Moriuchi, H., Miyawaki, T.
RefTitle Activation-dependent T cell expression of the X-linked
RefTitle lymphoproliferative disease gene product SLAM-associated
RefTitle protein and its assessment for patient detection.
RefLoc Int Immunol:1215-1223 (2002)
Symptoms Classical XLP
Protein struct Large deletion
Sex XY
Family history Inherited
Relative SH2D1A; A0131; brother
Comment -!-Symptoms: cervical lymphadenopathy, hepatosplenomegaly,
Comment -!-Symptoms: pimary EBV infection, lymphocytosis
Comment -!-Clinical history: died 53 days after admission
//
ID SH2D1A_Deletion (25b); standard; MUTATION; GROSS
Accession A0562
Description Deletion of the exons 3-4
Date 12-Jun-2007 (Rel. 2, Created)
Date 12-Jun-2007 (Rel. 2, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12356686
RefAuthors Shinozaki, K., Kanegane, H., Matsukura, H., Sumazaki, R.,
RefAuthors Tsuchida, M., Makita, M., Kimoto, Y., Kanai, R., Tsumura,
RefAuthors K., Kondoh, T., Moriuchi, H., Miyawaki, T.
RefTitle Activation-dependent T cell expression of the X-linked
RefTitle lymphoproliferative disease gene product SLAM-associated
RefTitle protein and its assessment for patient detection.
RefLoc Int Immunol:1215-1223 (2002)
Protein struct Large deletion
Sex XY
Family history Inherited
Relative SH2D1A; A0130; brother
//
ID STAT1_#E587X604(1),#E587X604(1); standard; MUTATION; SH2,SH2
Accession A0563
Systematic name Allele 1 and 2: g.35720_35721delAG, c.1760_1761delAG,
Systematic name r.1760_1761delag, p.Glu587fsX17
Original code P1
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 20 leading to a premature stop codon in the SH2 domain
Date 13-Aug-2003 (Rel. 1, Created)
Date 13-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12590259
RefAuthors Dupuis, S., Jouanguy, E., Al-Hajjar, S., Fieschi, C., Al-
RefAuthors Mohsen, I. Z., Al-Jumaah, S., Yang, K., Chapgier, A.,
RefAuthors Eidenschenk, C., Eid, P., Al Ghonaium, A., Tufenkeji, H.,
RefAuthors Frayha, H., Al-Gazlan, S., Al-Rayes, H., Schreiber, R. D.,
RefAuthors Gresser, I., Casanova, J. L.
RefTitle Impaired response to interferon-alpha/beta and lethal
RefTitle viral disease in human STAT1 deficiency.
RefLoc Nat Genet 33:388-391 (2003)
DB CrossRef STAT1base; S0003
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0081: 35720..35721
Feature /change: -ag
Feature /genomic_region: exon; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0081: 1956..1957
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42224; STAT1_HUMAN: 587
Feature /change: E -> ACPVEGPAAG DLPAAVQX
Feature /domain: SH2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0081: 35720..35721
Feature /change: -ag
Feature /genomic_region: exon; 20
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0081: 1956..1957
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P42224; STAT1_HUMAN: 587
Feature /change: E -> ACPVEGPAAG DLPAAVQX
Feature /domain: SH2
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes
Symptoms Other clinical features: Patient died of disseminated
Symptoms disease with recurrent encephalitis caused by herpes
Symptoms simplex virus 1 (HSV-1)
Sex XX
Parents Consanguineous
//
ID STAT1_L600P(1),L600P(1); standard; MUTATION; SH2,SH2
Accession A0564
Systematic name Allele 1 and 2: g.35759T>C, c.1799T>C, r.1799u>c,
Systematic name p.Leu600Pro
Original code P2
Description Allele 1 and 2: a point mutation in the exon 20 leading to
Description an amino acid change in the SH2 domain
Date 13-Aug-2003 (Rel. 1, Created)
Date 13-Aug-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12590259
RefAuthors Dupuis, S., Jouanguy, E., Al-Hajjar, S., Fieschi, C., Al-
RefAuthors Mohsen, I. Z., Al-Jumaah, S., Yang, K., Chapgier, A.,
RefAuthors Eidenschenk, C., Eid, P., Al Ghonaium, A., Tufenkeji, H.,
RefAuthors Frayha, H., Al-Gazlan, S., Al-Rayes, H., Schreiber, R. D.,
RefAuthors Gresser, I., Casanova, J. L.
RefTitle Impaired response to interferon-alpha/beta and lethal
RefTitle viral disease in human STAT1 deficiency.
RefLoc Nat Genet 33:388-391 (2003)
DB CrossRef STAT1base; S0004
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0081: 35759
Feature /change: t -> c
Feature /genomic_region: exon; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0081: 1995
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P42224; STAT1_HUMAN: 600
Feature /change: L -> P
Feature /domain: SH2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0081: 35759
Feature /change: t -> c
Feature /genomic_region: exon; 20
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0081: 1995
Feature /codon: ctg -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P42224; STAT1_HUMAN: 600
Feature /change: L -> P
Feature /domain: SH2
Symptoms BCG vaccination:
Symptoms BCG vaccinated: Yes; infected by BCG: Yes
Symptoms Other clinical features: Patient died of viral-like ilness,
Symptoms but viral cultures and serologies could not be done
Sex XX
Parents Consanguineous
//
ID STAT5B_A630P(1),A630P(1); standard; MUTATION; SH2,SH2
Accession A0565
Systematic name Allele 1 and 2: g.67275G>C, c.1888G>C, r.1888g>c,
Systematic name p.Ala630Pro
Description Allele 1 and 2: a point mutation in the exon 15 leading to
Description an amino acid change in the SH2 domain
Date 16-Feb-2004 (Rel. 1, Created)
Date 16-Feb-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 13679528
RefAuthors Kofoed, E. M., Hwa, V., Little, B., Woods, K. A., Buckway,
RefAuthors C. K., Tsubaki, J., Pratt, K. L., Bezrodnik, L., Jasper,
RefAuthors H., Tepper, A., Heinrich, J. J., Rosenfeld, R. G.
RefTitle Growth hormone insensitivity associated with a STAT5b
RefTitle mutation.
RefLoc N Engl J Med 349:1139-1147 (2003)
DB CrossRef STAT5Bbase; S0001
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0082: 67275
Feature /change: g -> c
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0082: 2057
Feature /codon: gct -> cct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P51692; STA5B_HUMAN: 630
Feature /change: A -> P
Feature /domain: SH2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0082: 67275
Feature /change: g -> c
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0082: 2057
Feature /codon: gct -> cct; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P51692; STA5B_HUMAN: 630
Feature /change: A -> P
Feature /domain: SH2
Symptoms Respiratory difficulties with oxygen requirements, lymphoid
Symptoms interstitial pneumonia, multiple episodes of bronchial
Symptoms obstruction, hemorrhagic varicella, several episodes of
Symptoms herpes zoster. Patient had a prominent forehead, a saddle
Symptoms nose and a high-pitched voice.
Sex XX
Ethnic origin Argentine
Parents Consanguineous
//
ID ZAP70_P80Q(1),M572L(1); standard; MUTATION; SH2_1,TK
Accession A0566
Systematic name Allele 1: g.11708C>A, c.239C>A, r.239c>a, p.Pro80Gln
Systematic name Allele 2: g.25518A>T, c.1714A>T, r.1714a>u, p.Met572Leu
Description Allele 1: A point mutation in the exon 3 leading to an
Description amino acid change in the SH2_1 domain
Description Allele 2: A point mutation in the exon 13 leading to an
Description amino acid change in the SH2_1 domain
Date 24-Oct-2000 (Rel. 1, Created)
Date 14-Aug-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10574909
RefAuthors Matsuda, S., Suzuki-Fujimoto, T., Minowa, A., Ueno, H.,
RefAuthors Katamura, K., Koyasu, S.
RefTitle Temperature-sensitive ZAP70 mutants degrading through a
RefTitle proteasome-independent pathway. restoration of a kinase
RefTitle domain mutant by cdc37.
RefLoc J Biol Chem 274:34515-34518 (1999)
DB CrossRef ZAP70base; Z0006
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 11708
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 448
Feature /codon: ccg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 80
Feature /change: P -> Q
Feature /domain: SH2_1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25518
Feature /change: a -> t
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1923
Feature /codon: atg -> ttg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 572
Feature /change: M -> L
Feature /domain: TK
Diagnosis T-B- severe combined immunodeficiency
//
|
