Database PTPN11base
Version 1.00
File PTPN11base.txt
Date 22-Feb-2008
Curator Janita Thusberg
Address Institute of Medical Technology, University of Tampere,
Address POB 607, FIN-33101 Tampere, Finland
Phone +358-3-3551 8915
Email janita.thusberg@uta.fi
URL http://bioinf.uta.fi/PTPN11base/
Gene PTPN11, SH2 domain
Disease Noonan syndrome, Noonan-like / multiple giant-cell lesion
Disease syndrome, JMML, AML, MDS
OMIM 176876; 151100; 163950; 163955; 607785
Sequence SH2base:PTPN11_DNA; Genbank: NM_002834.3; UniProt:Q06124-2
Numbering start of the entry
RefCrossRef PUBMED; 18260110
RefAuthors Lappalainen, I., Thusberg, J., Shen, B., Vihinen, M.
RefTitle Genome wide analysis of pathogenic SH2 domain mutations.
RefLoc Proteins (2008)
Funding Finnish acedemy; Instrumentariumin tiedesaatio; Sigrid
Funding Juselius Foundation; European concerted action 'PL963007'
Funding Tampere University Hospital Medical Research Fund
Funding Tampere Graduate School in Biomedicine and Biotechnology
Comments sequence entry reference in every entry;
//
ID T42A(1); standard; MUTATION; SH2_1
Accession A0001
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)
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 T42A(2); standard; MUTATION; SH2_1
Accession A0002
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)
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 T42A(3); standard; MUTATION; SH2_1
Accession A0003
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)
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 T42A(4); standard; MUTATION; SH2_1
Accession A0004
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)
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 T42A(5); standard; MUTATION; SH2_1
Accession A0005
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)
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 N58D(1); standard; MUTATION; SH2_1
Accession A0006
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)
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 N58K(1); standard; MUTATION; SH2_1
Accession A0007
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)
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 N58Y(1); standard; MUTATION; SH2_1
Accession A0008
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)
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 G60A(1); standard; MUTATION; SH2_1
Accession A0010
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)
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 G60A(2); standard; MUTATION; SH2_1
Accession A0011
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)
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 G60A(3); standard; MUTATION; SH2_1
Accession A0012
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)
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 G60R(1); standard; MUTATION; SH2_1
Accession A0024
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)
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 G60V(1); standard; MUTATION; SH2_1
Accession A0013
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)
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 G60V(2); standard; MUTATION; SH2_1
Accession A0014
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)
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 G60V(3); standard; MUTATION; SH2_1
Accession A0015
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)
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 G60V(4); standard; MUTATION; SH2_1
Accession A0016
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)
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 G60V(5); standard; MUTATION; SH2_1
Accession A0017
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)
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 G60V(6); standard; MUTATION; SH2_1
Accession A0018
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)
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 G60V(7); standard; MUTATION; SH2_1
Accession A0019
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)
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 G60V(8); standard; MUTATION; SH2_1
Accession A0020
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)
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 G60V(9); standard; MUTATION; SH2_1
Accession A0021
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)
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 G60V(10); standard; MUTATION; SH2_1
Accession A0022
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)
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 G60V(11); standard; MUTATION; SH2_1
Accession A0023
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)
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 D61G(1); standard; MUTATION; SH2_1
Accession A0025
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)
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 D61G(2); standard; MUTATION; SH2_1
Accession A0026
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)
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 D61G(3); standard; MUTATION; SH2_1
Accession A0027
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)
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 D61G(4); standard; MUTATION; SH2_1
Accession A0028
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)
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 D61G(5); standard; MUTATION; SH2_1
Accession A0029
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)
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 D61G(6); standard; MUTATION; SH2_1
Accession A0030
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)
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 D61G(7); standard; MUTATION; SH2_1
Accession A0031
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)
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 D61G(8); standard; MUTATION; SH2_1
Accession A0032
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)
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 D61G(9); standard; MUTATION; SH2_1
Accession A0033
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)
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 D61G(10); standard; MUTATION; SH2_1
Accession A0034
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)
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 D61G(11); standard; MUTATION; SH2_1
Accession A0035
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)
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 D61N(1); standard; MUTATION; SH2_1
Accession A0059
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)
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 D61N(2); standard; MUTATION; SH2_1
Accession A0060
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)
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 D61N(3); standard; MUTATION; SH2_1
Accession A0061
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)
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 D61V(1); standard; MUTATION; SH2_1
Accession A0036
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)
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 D61V(2); standard; MUTATION; SH2_1
Accession A0037
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)
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 D61V(3); standard; MUTATION; SH2_1
Accession A0038
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)
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 D61V(4); standard; MUTATION; SH2_1
Accession A0039
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)
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 D61V(5); standard; MUTATION; SH2_1
Accession A0040
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)
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 D61V(6); standard; MUTATION; SH2_1
Accession A0041
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)
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 D61V(7); standard; MUTATION; SH2_1
Accession A0042
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)
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 D61V(8); standard; MUTATION; SH2_1
Accession A0043
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)
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 D61V(9); standard; MUTATION; SH2_1
Accession A0044
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)
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 D61V(10); standard; MUTATION; SH2_1
Accession A0045
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)
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 D61V(11); standard; MUTATION; SH2_1
Accession A0238
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)
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 D61Y(1); standard; MUTATION; SH2_1
Accession A0046
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)
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 D61Y(2); standard; MUTATION; SH2_1
Accession A0047
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)
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 D61Y(3); standard; MUTATION; SH2_1
Accession A0048
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)
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 D61Y(4); standard; MUTATION; SH2_1
Accession A0049
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)
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 D61Y(5); standard; MUTATION; SH2_1
Accession A0050
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)
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 D61Y(6); standard; MUTATION; SH2_1
Accession A0051
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)
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 D61Y(7); standard; MUTATION; SH2_1
Accession A0052
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)
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 D61Y(8); standard; MUTATION; SH2_1
Accession A0053
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)
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 D61Y(9); standard; MUTATION; SH2_1
Accession A0054
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)
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 D61Y(10); standard; MUTATION; SH2_1
Accession A0055
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)
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 D61Y(11); standard; MUTATION; SH2_1
Accession A0056
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)
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 D61Y(12); standard; MUTATION; SH2_1
Accession A0057
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)
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 D61Y(13); standard; MUTATION; SH2_1
Accession A0058
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)
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 D61Y(14); standard; MUTATION; SH2_1
Accession A0228
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)
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 D61Y(15); standard; MUTATION; SH2_1
Accession A0229
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)
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 D61Y(16); standard; MUTATION; SH2_1
Accession A0230
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)
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 Y62D(1); standard; MUTATION; SH2_1
Accession A0062
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)
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 Y62D(2); standard; MUTATION; SH2_1
Accession A0063
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)
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 Y62D(3); standard; MUTATION; SH2_1
Accession A0064
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)
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 Y62D(4); standard; MUTATION; SH2_1
Accession A0065
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)
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 Y62D(5); standard; MUTATION; SH2_1
Accession A0066
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)
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 Y62D(6); standard; MUTATION; SH2_1
Accession A0067
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)
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 Y62D(7); standard; MUTATION; SH2_1
Accession A0068
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)
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 Y62D(8); standard; MUTATION; SH2_1
Accession A0069
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)
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 Y62D(9); standard; MUTATION; SH2_1
Accession A0070
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)
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 Y63C(1); standard; MUTATION; SH2_1
Accession A0071
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)
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 Y63C(2); standard; MUTATION; SH2_1
Accession A0072
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)
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 Y63C(3); standard; MUTATION; SH2_1
Accession A0073
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)
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 Y63C(4); standard; MUTATION; SH2_1
Accession A0074
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)
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 Y63C(5); standard; MUTATION; SH2_1
Accession A0075
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)
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 Y63C(6); standard; MUTATION; SH2_1
Accession A0076
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)
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 Y63C(7); standard; MUTATION; SH2_1
Accession A0077
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)
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 Y63C(8); standard; MUTATION; SH2_1
Accession A0078
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)
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 Y63C(9); standard; MUTATION; SH2_1
Accession A0079
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)
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 Y63C(10); standard; MUTATION; SH2_1
Accession A0080
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)
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 Y63C(11); standard; MUTATION; SH2_1
Accession A0081
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)
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 Y63C(12); standard; MUTATION; SH2_1
Accession A0082
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)
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 Y63C(13); standard; MUTATION; SH2_1
Accession A0083
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)
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 Y63C(14); standard; MUTATION; SH2_1
Accession A0084
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)
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 Y63C(15); standard; MUTATION; SH2_1
Accession A0085
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)
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 Y63C(16); standard; MUTATION; SH2_1
Accession A0086
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)
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 Y63C(17); standard; MUTATION; SH2_1
Accession A0087
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)
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 Y63C(18); standard; MUTATION; SH2_1
Accession A0088
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)
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 Y63C(19); standard; MUTATION; SH2_1
Accession A0233
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)
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 Y63C(20); standard; MUTATION; SH2_1
Accession A0234
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)
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 E69K(1); standard; MUTATION; SH2_1
Accession A0089
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)
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 E69K(2); standard; MUTATION; SH2_1
Accession A0090
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)
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 E69K(3); standard; MUTATION; SH2_1
Accession A0091
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)
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 E69K(4); standard; MUTATION; SH2_1
Accession A0092
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)
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 E69K(5); standard; MUTATION; SH2_1
Accession A0093
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)
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 E69K(6); standard; MUTATION; SH2_1
Accession A0094
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)
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 E69K(7); standard; MUTATION; SH2_1
Accession A0095
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)
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 E69K(8); standard; MUTATION; SH2_1
Accession A0096
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)
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 E69K(9); standard; MUTATION; SH2_1
Accession A0235
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)
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 E69K(10); standard; MUTATION; SH2_1
Accession A0251
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)
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 E69Q(1); standard; MUTATION; SH2_1
Accession A0097
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)
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 E69Q(2); standard; MUTATION; SH2_1
Accession A0098
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)
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 F71K(1); standard; MUTATION; SH2_1
Accession A0099
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)
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 F71L(1); standard; MUTATION; SH2_1
Accession A0100
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)
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 F71L(2); standard; MUTATION; SH2_1
Accession A0240
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)
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 A72D(1); standard; MUTATION; SH2_1
Accession A0106
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)
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 A72D(2); standard; MUTATION; SH2_1
Accession A0107
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)
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 A72G(1); standard; MUTATION; SH2_1
Accession A0101
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)
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 A72G(2); standard; MUTATION; SH2_1
Accession A0102
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)
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 A72G(3); standard; MUTATION; SH2_1
Accession A0103
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)
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 A72G(4); standard; MUTATION; SH2_1
Accession A0104
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)
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 A72G(5); standard; MUTATION; SH2_1
Accession A0105
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)
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 A72S(1); standard; MUTATION; SH2_1
Accession A0108
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)
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 A72S(2); standard; MUTATION; SH2_1
Accession A0109
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)
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 A72T(1); standard; MUTATION; SH2_1
Accession A0110
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)
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 A72T(2); standard; MUTATION; SH2_1
Accession A0111
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)
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 A72T(3); standard; MUTATION; SH2_1
Accession A0112
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)
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 A72T(4); standard; MUTATION; SH2_1
Accession A0113
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)
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 A72T(5); standard; MUTATION; SH2_1
Accession A0114
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)
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 A72T(6); standard; MUTATION; SH2_1
Accession A0115
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)
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 A72T(7); standard; MUTATION; SH2_1
Accession A0116
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)
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 A72T(8); standard; MUTATION; SH2_1
Accession A0117
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)
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 A72T(9); standard; MUTATION; SH2_1
Accession A0118
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)
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 A72T(10); standard; MUTATION; SH2_1
Accession A0119
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)
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 A72T(11); standard; MUTATION; SH2_1
Accession A0120
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)
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 A72T(12); standard; MUTATION; SH2_1
Accession A0224
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)
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 A72T(13); standard; MUTATION; SH2_1
Accession A0225
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)
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 A72T(14); standard; MUTATION; SH2_1
Accession A0227
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)
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 A72T(15); standard; MUTATION; SH2_1
Accession A0242
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)
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 A72T(16); standard; MUTATION; SH2_1
Accession A0244
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)
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 A72T(17); standard; MUTATION; SH2_1
Accession A0249
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)
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 A72V(1); standard; MUTATION; SH2_1
Accession A0121
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)
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 A72V(2); standard; MUTATION; SH2_1
Accession A0122
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)
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 A72V(3); standard; MUTATION; SH2_1
Accession A0123
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)
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 A72V(4); standard; MUTATION; SH2_1
Accession A0124
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)
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 A72V(5); standard; MUTATION; SH2_1
Accession A0125
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)
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 A72V(6); standard; MUTATION; SH2_1
Accession A0126
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)
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 A72V(7); standard; MUTATION; SH2_1
Accession A0127
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)
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 A72V(8); standard; MUTATION; SH2_1
Accession A0128
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)
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 A72V(9); standard; MUTATION; SH2_1
Accession A0129
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)
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 A72V(10); standard; MUTATION; SH2_1
Accession A0130
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)
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 A72V(11); standard; MUTATION; SH2_1
Accession A0131
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)
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 A72V(12); standard; MUTATION; SH2_1
Accession A0132
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)
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 A72V(13); standard; MUTATION; SH2_1
Accession A0133
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)
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 A72V(14); standard; MUTATION; SH2_1
Accession A0231
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)
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 A72V(15); standard; MUTATION; SH2_1
Accession A0237
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)
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 A72V(16); standard; MUTATION; SH2_1
Accession A0247
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)
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 A72V(17); standard; MUTATION; SH2_1
Accession A0248
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)
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 T73I(1); standard; MUTATION; SH2_1
Accession A0134
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)
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 T73I(2); standard; MUTATION; SH2_1
Accession A0135
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)
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 T73I(3); standard; MUTATION; SH2_1
Accession A0136
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)
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 T73I(4); standard; MUTATION; SH2_1
Accession A0137
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)
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 T73I(5); standard; MUTATION; SH2_1
Accession A0138
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)
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 T73I(6); standard; MUTATION; SH2_1
Accession A0139
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)
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 T73I(7); standard; MUTATION; SH2_1
Accession A0140
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)
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 T73I(8); standard; MUTATION; SH2_1
Accession A0141
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)
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 T73I(9); standard; MUTATION; SH2_1
Accession A0142
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)
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 T73I(10); standard; MUTATION; SH2_1
Accession A0143
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)
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 T73I(11); standard; MUTATION; SH2_1
Accession A0144
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)
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 T73I(12); standard; MUTATION; SH2_1
Accession A0145
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)
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 T73I(13); standard; MUTATION; SH2_1
Accession A0146
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)
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 T73I(14); standard; MUTATION; SH2_1
Accession A0147
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)
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 T73I(15); standard; MUTATION; SH2_1
Accession A0236
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)
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 T73I(16); standard; MUTATION; SH2_1
Accession A0239
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)
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 T73I(17); standard; MUTATION; SH2_1
Accession A0243
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)
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 E76A(1); standard; MUTATION; SH2_1
Accession A0150
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)
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 E76A(2); standard; MUTATION; SH2_1
Accession A0151
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)
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 E76A(3); standard; MUTATION; SH2_1
Accession A0223
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)
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 E76D(1); standard; MUTATION; SH2_1
Accession A0152
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)
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 E76D(2); standard; MUTATION; SH2_1
Accession A0153
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)
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 E76D(3); standard; MUTATION; SH2_1
Accession A0154
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)
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 E76D(4); standard; MUTATION; SH2_1
Accession A0155
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)
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 E76G(1); standard; MUTATION; SH2_1
Accession A0156
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)
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 E76G(2); standard; MUTATION; SH2_1
Accession A0157
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)
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 E76G(3); standard; MUTATION; SH2_1
Accession A0158
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)
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 E76G(4); standard; MUTATION; SH2_1
Accession A0159
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)
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 E76G(5); standard; MUTATION; SH2_1
Accession A0160
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)
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 E76G(6); standard; MUTATION; SH2_1
Accession A0161
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)
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 E76G(7); standard; MUTATION; SH2_1
Accession A0162
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)
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 E76G(8); standard; MUTATION; SH2_1
Accession A0163
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)
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 E76G(9); standard; MUTATION; SH2_1
Accession A0164
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)
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 E76G(10); standard; MUTATION; SH2_1
Accession A0165
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)
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 E76G(11); standard; MUTATION; SH2_1
Accession A0166
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)
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 E76G(12); standard; MUTATION; SH2_1
Accession A0167
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)
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 E76G(13); standard; MUTATION; SH2_1
Accession A0250
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)
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 E76K(1); standard; MUTATION; SH2_1
Accession A0168
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)
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 E76K(2); standard; MUTATION; SH2_1
Accession A0169
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)
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 E76K(3); standard; MUTATION; SH2_1
Accession A0170
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)
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 E76K(4); standard; MUTATION; SH2_1
Accession A0171
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)
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 E76K(5); standard; MUTATION; SH2_1
Accession A0172
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)
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 E76K(6); standard; MUTATION; SH2_1
Accession A0173
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)
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 E76K(7); standard; MUTATION; SH2_1
Accession A0174
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)
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 E76K(8); standard; MUTATION; SH2_1
Accession A0175
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)
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 E76K(9); standard; MUTATION; SH2_1
Accession A0176
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)
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 E76K(10); standard; MUTATION; SH2_1
Accession A0177
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)
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 E76K(11); standard; MUTATION; SH2_1
Accession A0178
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)
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 E76K(12); standard; MUTATION; SH2_1
Accession A0179
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)
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 E76K(13); standard; MUTATION; SH2_1
Accession A0180
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)
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 E76K(14); standard; MUTATION; SH2_1
Accession A0181
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)
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 E76K(15); standard; MUTATION; SH2_1
Accession A0182
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)
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 E76K(16); standard; MUTATION; SH2_1
Accession A0183
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)
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 E76K(17); standard; MUTATION; SH2_1
Accession A0184
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)
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 E76K(18); standard; MUTATION; SH2_1
Accession A0185
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)
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 E76K(19); standard; MUTATION; SH2_1
Accession A0186
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)
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 E76K(20); standard; MUTATION; SH2_1
Accession A0187
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)
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 E76K(21); standard; MUTATION; SH2_1
Accession A0188
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)
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 E76K(22); standard; MUTATION; SH2_1
Accession A0189
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)
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 E76K(23); standard; MUTATION; SH2_1
Accession A0190
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)
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 E76K(24); standard; MUTATION; SH2_1
Accession A0191
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)
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 E76K(25); standard; MUTATION; SH2_1
Accession A0192
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)
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 E76K(26); standard; MUTATION; SH2_1
Accession A0193
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)
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 E76K(27); standard; MUTATION; SH2_1
Accession A0194
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)
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 E76K(28); standard; MUTATION; SH2_1
Accession A0195
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)
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 E76K(29); standard; MUTATION; SH2_1
Accession A0196
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)
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 E76K(30); standard; MUTATION; SH2_1
Accession A0197
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)
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 E76K(31); standard; MUTATION; SH2_1
Accession A0198
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)
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 E76K(32); standard; MUTATION; SH2_1
Accession A0199
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)
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 E76K(33); standard; MUTATION; SH2_1
Accession A0200
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)
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 E76K(34); standard; MUTATION; SH2_1
Accession A0201
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)
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 E76K(35); standard; MUTATION; SH2_1
Accession A0226
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)
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 E76K(36); standard; MUTATION; SH2_1
Accession A0245
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)
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 E76K(37); standard; MUTATION; SH2_1
Accession A0246
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)
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 E76K(38); standard; MUTATION; SH2_1
Accession A0252
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)
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 E76Q(1); standard; MUTATION; SH2_1
Accession A0202
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)
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 E76Q(2); standard; MUTATION; SH2_1
Accession A0203
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)
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 E76Q(3); standard; MUTATION; SH2_1
Accession A0204
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)
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 E76Q(4); standard; MUTATION; SH2_1
Accession A0253
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)
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 E76V(1); standard; MUTATION; SH2_1
Accession A0205
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)
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 Q79P(1); standard; MUTATION; SH2_1
Accession A0206
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)
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 Q79P(2); standard; MUTATION; SH2_1
Accession A0207
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)
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 Q79R(1); standard; MUTATION; SH2_1
Accession A0208
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)
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 Q79R(2); standard; MUTATION; SH2_1
Accession A0209
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)
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 Q79R(3); standard; MUTATION; SH2_1
Accession A0210
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)
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 Q79R(4); standard; MUTATION; SH2_1
Accession A0211
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)
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 Q79R(5); standard; MUTATION; SH2_1
Accession A0212
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)
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 Q79R(6); standard; MUTATION; SH2_1
Accession A0213
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)
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 Q79R(7); standard; MUTATION; SH2_1
Accession A0214
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)
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 Q79R(8); standard; MUTATION; SH2_1
Accession A0215
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)
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 Q79R(9); standard; MUTATION; SH2_1
Accession A0216
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)
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 Q79R(10); standard; MUTATION; SH2_1
Accession A0217
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)
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 Q79R(11); standard; MUTATION; SH2_1
Accession A0218
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)
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 E139D(1); standard; MUTATION; SH2_2
Accession A0219
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)
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 E139D(2); standard; MUTATION; SH2_2
Accession A0220
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)
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 E139D(3); standard; MUTATION; SH2_2
Accession A0221
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)
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 E139D(4); standard; MUTATION; SH2_2
Accession A0232
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)
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 R152H(1); standard; MUTATION; SH2_2
Accession A0222
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)
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)
//
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