Database WASbase
Version 1.0
File waspub.html
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/WASbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF71.html
Gene WAS
Disease Wiskott-Aldrich syndrome (WAS)
OMIM 300392
GDB 120736
Sequence EMBL:AF196970; EMBL:U12707; SWISSPROT:P42768
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID S2T(1); standard; MUTATION;
Accession W0124
Systematic name g.31656G>C, c.5G>C, r.5g>c, p.Ser2Thr
Description A point mutation in the exon 1 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31656
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 39
Feature /codon: agt -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 2
Feature /change: S -> T
Ethnic origin France
//
ID #G4X44(1); standard; MUTATION;
Accession W0123
Systematic name g.31662delG, c.11delG, r.11delg, p.Gly4fsX41
Description A frame shift deletion mutation in the exon 1 leading to a
Description premature stop codon
Date 02-Aug-2010 (Rel. 1, Created)
Date 02-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16511828
RefAuthors Du, W., Kumaki, S., Uchiyama, T., Yachie, A., Yeng Looi,
RefAuthors C., Kawai, S., Minegishi, M., Ramesh, N., Geha, R. S.,
RefAuthors Sasahara, Y., Tsuchiya, S.
RefTitle A second-site mutation in the initiation codon of
RefTitle WAS (WASP) results in expansion of subsets of lymphocytes
RefTitle in an wiskott-aldrich syndrome patient.
RefLoc Hum Mutat:370-375 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 31662
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 45
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 4
Feature /change: G ->
Feature /change: AQWEEGPGAE EHQRFSRTYP PPSSRTTRTS DSLRCLDENA X
Symptoms Thrombocytopenia; Eczema; Recurrent infections;
IgA 239 mg/dL
IgG 1,466 mg/dL
IgM 25 mg/dL
Age 15
Sex XY
//
ID M6I(1a); standard; MUTATION;
Accession W0125
Systematic name g.31669G>A, c.18G>A, r.18g>a, p.Met6Ile
Description A point mutation in the exon 1 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31669
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 52
Feature /codon: atg -> ata; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 6
Feature /change: M -> I
Ethnic origin Japan
Relative WASbase; W0126
//
ID M6I(1b); standard; MUTATION;
Accession W0126
Systematic name g.31669G>A, c.18G>A, r.18g>a, p.Met6Ile
Description A point mutation in the exon 1 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31669
Feature /change: g -> a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 52
Feature /codon: atg -> ata; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 6
Feature /change: M -> I
Ethnic origin Japan
Relative WASbase; W0125
//
ID R13X(1); standard; MUTATION;
Accession W0036
Systematic name g.31688C>T, c.37C>T, r.37c>u, p.Arg13X
Original code Case6
Description A point mutation in the exon 1 leading to a premature stop
Description codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15497008
RefAuthors Chien, Y. H., Hwu, W. L., Ariga, T., Chang, K. W., Yang,
RefAuthors Y. H., Lin, K. H., Chiang, B. L.
RefTitle Molecular diagnosis of wiskott-aldrich syndrome in taiwan.
RefLoc J Microbiol Immunol Infect:276-281 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31688
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 71
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 13
Feature /change: R -> X
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 28,000/µL
Treatment Bone marrow transplatation: Yes
Treatment Donor: mismatched family donor
Age 3
Ethnic origin Taiwan
Family history De novo
//
ID R13X(2); standard; MUTATION;
Accession W0055
Systematic name g.31688C>T, c.37C>T, r.37c>u, p.Arg13X
Original code W15
Description A point mutation in the exon 1 leading to a premature stop
Description codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31688
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 71
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 13
Feature /change: R -> X
Diagnosis Wiskott Aldrich syndrome
Age 0.5
Sex XY
//
ID G14X(1); standard; MUTATION;
Accession W0027
Systematic name g.31691G>T, c.74G>T, p.G14X
Description Point mutation in the exon 1 leading to a premature stop
Description codon
Date 12-Mar-2003 (Rel. 7, Created)
Date 12-Mar-2003 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (12-Mar-2003) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31691
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 74
Feature /codon: gga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 14
Feature /change: G -> X
mRNA level N.D.
Protein level N.D.
Protein struct G 14 X
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 13/1/87
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 8
Symptoms Most recent: Date: 11/11/94; Count: 23
Symptoms Anti-platelet antibodies demonstrated:not done
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: mild
Symptoms Infections: severe
Symptoms Bacterial: sepsis; pneumonia
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 13/01/87
IgA 405 mg/dL, compare with normal for age: high
IgE 2950 kU/L, compare with normal for age: high
IgG 205 mg/dL, compare with normal for age: low
IgM 153 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 5/08/87
Lymphocytes total lymphocytes: 2730/mm3
Lymphocytes total CD4: 873/mm3
Lymphocytes total CD8: 328/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: not done
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: constant
Treatment No still on IVIG
Treatment Still on IVIG
Treatment responding to infection: no effect
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment No bone marrow transplatation
//
ID #A15X43(1); standard; MUTATION;
Accession W0092
Systematic name g.31696_31699delACCA, c.45_48delACCA, r.45_48delacca,
Systematic name p.Pro16fsX28
Original code P2
Description A frame shift deletion mutation in the exon 1 leading to a
Description premature stop codon
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20232122
RefAuthors Lee, W. I., Huang, J. L., Jaing, T. H., Wu, K. H., Chien,
RefAuthors Y. H., Chang, K. W.
RefTitle Clinical aspects and genetic analysis of taiwanese
RefTitle patients with wiskott-aldrich syndrome protein mutation:
RefTitle the first identification of x-linked thrombocytopenia in
RefTitle the chinese with novel mutations.
RefLoc J Clin Immunol:593-601 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 31696..31699
Feature /change: -acca
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 79..82
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 15..16
Feature /change: AP -> ARFSRTYPPP SSRTTRTSDS LRCLDENAX
Diagnosis Date: 2004
Diagnosis Wiskott Aldrich syndrome
Symptoms Infections:
Symptoms Bacterial: sepsis; diarrhoea
Symptoms failure to thrive, skin infections
IgA 228 IU/L
IgE 14,282 IU/L, compare with normal for age: high
IgG 1,880 mg/dL, compare with normal for age: high
IgM 76 mg/dL
Lymphocytes Lymphocytes at diagnosis:
Lymphocytes CD4: 23 %
Lymphocytes CD8: 17 %
Age 2 mo
Sex XY
Ethnic origin Taiwan
Family history Inherited
//
ID #Q19X44(1a); standard; MUTATION;
Accession W0063
Systematic name g.31708delG, c.57delG, r.57delg, p.Gln19fsX26
Original code W23.1
Description A frame shift deletion mutation in the exon 1 leading to a
Description premature stop codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 31708
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 91
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 19
Feature /change: Q -> HRTYPPPSSR TTRTSDSLRC LDENAX
Diagnosis Wiskott Aldrich syndrome
Age 1
Sex XY
Relative WASbase; W0064 unknown
//
ID #Q19X44(1b); standard; MUTATION;
Accession W0064
Systematic name g.31708delG, c.57delG, r.57delg, p.Gln19fsX26
Original code W23.2
Description A frame shift deletion mutation in the exon 1 leading to a
Description premature stop codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 31708
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 91
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 19
Feature /change: Q -> HRTYPPPSSR TTRTSDSLRC LDENAX
Diagnosis Wiskott Aldrich syndrome
Age 0.55
Sex XY
Relative WASbase; W0063 unknown
//
ID Q20X(1a); standard; MUTATION;
Accession W0089
Systematic name g.31709C>T, c.58C>T, r.58c>u, p.Gln20X
Original code P1
Description A point mutation in the exon 1 leading to a premature stop
Description codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18479478
RefAuthors Boztug, K., Germeshausen, M., Avedillo Diez, I., Gulacsy,
RefAuthors V., Diestelhorst, J., Ballmaier, M., Welte, K., Marodi,
RefAuthors L., Chernyshova, L., Klein, C.
RefTitle Multiple independent second-site mutations in two siblings
RefTitle with somatic mosaicism for wiskott-aldrich syndrome.
RefLoc Clin Genet:68-74 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31709
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 92
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 20
Feature /change: Q -> X
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 45,000/µl
Symptoms Most recent: Date: --/02/2008; Count: 260,0007/µl
Symptoms Eczema, Bloody diarrhoea
Symptoms Infections:
Symptoms Recurrent upper respiratory infections
Symptoms Viral: CMV
Age 4
Sex XY
Relative WASbase; W0090 brother
//
ID Q20X(1b); standard; MUTATION;
Accession W0090
Systematic name g.31709C>T, c.58C>T, r.58c>u, p.Gln20X
Original code P2
Description A point mutation in the exon 1 leading to a premature stop
Description codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18479478
RefAuthors Boztug, K., Germeshausen, M., Avedillo Diez, I., Gulacsy,
RefAuthors V., Diestelhorst, J., Ballmaier, M., Welte, K., Marodi,
RefAuthors L., Chernyshova, L., Klein, C.
RefTitle Multiple independent second-site mutations in two siblings
RefTitle with somatic mosaicism for wiskott-aldrich syndrome.
RefLoc Clin Genet:68-74 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31709
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 92
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 20
Feature /change: Q -> X
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 20,000/µl
Symptoms Most recent: Date: --/02/2008; Count: 280,0007/µl
Symptoms Eczema, Epistaxis
Symptoms Infections:
Symptoms Recurrent upper respiratory infections
Age 3
Sex XY
Relative WASbase; W0089 brother
//
ID S24F(1); standard; MUTATION;
Accession W0032
Systematic name g.31722C>T, c.71C>T, r.71c>u, p.Ser24Phe
Original code YN005
Description A point mutation in the exon 1 leading to an amino acid
Description change
Date 05-Aug-2004 (Rel. 7, Created)
Date 05-Aug-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (05-Aug-2004) to WASPbase.
RefLoc L.D. Notarangelo; Spedali Civili Brescia, Pediatrics,
RefLoc Brescia, Italy; Tel 0303995715; e-mail
RefLoc notarang@med.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31722
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 105
Feature /codon: tcc -> ttc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 24
Feature /change: S -> F
mRNA level N.D.
Protein level Reduced
Protein struct S24F
Sex M
Ethnic origin Caucasoid
Diagnosis Date: 03/07/93
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 10 x 10^9/L; Size: 5 fl
Symptoms Most recent: Date: 04/03/01; Count: 37 x 10^9/L; Size: 5,2
Symptoms fl
Symptoms Anti-platelet antibodies demonstrated:no
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: mild/moderate
Symptoms Infections: mild
Symptoms Autoimmune disease: yes
Symptoms Antibody to RBC: absent; ITP; vasculitis
Symptoms Malignancy: yes
Symptoms Malignancy type: Burkitt Lymphoma; Date: 04/07/01
Immunoglobulins date (closest to diagnosis): 01/07/93
IgA 132 mg/dL, compare with normal for age: normal
IgE 0,56 kU/L, compare with normal for age: high
IgG 1220 mg/dL, compare with normal for age: normal
IgM 84 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: AB
Response Isoagglutinins: anti-A: no; anti-B: no
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 10/07/93
Lymphocytes total lymphocytes: 144/mm3
Lymphocytes total CD4: 650/mm3
Lymphocytes total CD8: 310/mm3
Lymphocytes most recent: 04/09/01
Lymphocytes total lymphocytes: 610/mm3
Lymphocytes total CD4: 274/mm3
Lymphocytes total CD8: 180/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: low
Lymphocytes anti-CD3: low
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: intermittent
Treatment date started: 01/08/93
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment responding to autoimmunity: good
Treatment responding to thrombocytopenia: marginal
Treatment Prophylactic medication
Treatment antibiotics: intermittend
Treatment TMP-SMX: constant
//
ID S24F(2); standard; MUTATION;
Accession W0127
Systematic name g.31722C>T, c.71C>T, r.71c>u, p.Ser24Phe
Description A point mutation in the exon 1 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31722
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 105
Feature /codon: tcc -> ttc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 24
Feature /change: S -> F
Ethnic origin Japan
//
ID L27F(1); standard; MUTATION;
Accession W0128
Systematic name g.31730C>T, c.79C>T, r.79c>u, p.Leu27Phe
Description A point mutation in the exon 1 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31730
Feature /change: c -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 113
Feature /codon: ctc -> ttc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 27
Feature /change: L -> F
Ethnic origin US
//
ID #H30-1(1); standard; MUTATION;
Accession W0129
Systematic name g.31739_31741delCAC, c.88_90delCAC, r.88_90delcac,
Systematic name p.His30del
Description An inframe deletion in the exon 1 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 31739..31741
Feature /change: -cac
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: U12707; GI:695150; : 122..124
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 30
Feature /change: -H
Ethnic origin Germany
//
ID #H30-1(2a); standard; MUTATION;
Accession W0130
Systematic name g.31739_31741delCAC, c.88_90delCAC, r.88_90delcac,
Systematic name p.His30del
Description An inframe deletion in the exon 1 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 31739..31741
Feature /change: -cac
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: U12707; GI:695150; : 122..124
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 30
Feature /change: -H
Ethnic origin UK
Relative WASbase; W0131
Relative WASbase; W0132
Relative WASbase; W0133
//
ID #H30-1(2b); standard; MUTATION;
Accession W0131
Systematic name g.31739_31741delCAC, c.88_90delCAC, r.88_90delcac,
Systematic name p.His30del
Description An inframe deletion in the exon 1 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 31739..31741
Feature /change: -cac
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: U12707; GI:695150; : 122..124
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 30
Feature /change: -H
Ethnic origin UK
Relative WASbase; W0130
Relative WASbase; W0132
Relative WASbase; W0133
//
ID #H30-1(2c); standard; MUTATION;
Accession W0132
Systematic name g.31739_31741delCAC, c.88_90delCAC, r.88_90delcac,
Systematic name p.His30del
Description An inframe deletion in the exon 1 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 31739..31741
Feature /change: -cac
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: U12707; GI:695150; : 122..124
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 30
Feature /change: -H
Ethnic origin UK
Relative WASbase; W0130
Relative WASbase; W0131
Relative WASbase; W0133
//
ID #H30-1(2d); standard; MUTATION;
Accession W0133
Systematic name g.31739_31741delCAC, c.88_90delCAC, r.88_90delcac,
Systematic name p.His30del
Description An inframe deletion in the exon 1 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 31739..31741
Feature /change: -cac
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: EMBL: U12707; GI:695150; : 122..124
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 30
Feature /change: -H
Ethnic origin UK
Relative WASbase; W0130
Relative WASbase; W0131
Relative WASbase; W0132
//
ID E31K(1); standard; MUTATION;
Accession W0003
Systematic name g.31742G>A, c.125G>A, p.E31K
Description Point mutation in the exon 1 leading to an amino acid
Description change
Date 08-Nov-2002 (Rel. 7, Created)
Date 08-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (08-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31742
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 125
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 31
Feature /change: E -> K
mRNA level N.D.
Protein level Absent
Protein struct E 31 K
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 15/09/96
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 14; Size: 4
Symptoms Most recent: Date: 08/07/02; Count: 24; Size: 4.2
Symptoms Anti-platelet antibodies demonstrated:not done
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: mild
Symptoms Infections: severe
Symptoms Bacterial: pneumonia
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 10/02/98
IgA 104 mg/dL, compare with normal for age: normal
IgE 16 kU/L, compare with normal for age: normal
IgG 2010 mg/dL, compare with normal for age: high
IgM 30 mg/dL, compare with normal for age: low
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: A Rh+
Response Isoagglutinins: anti-A: NO; anti-B: NO
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 16/02/98
Lymphocytes total lymphocytes: 5614/mm3
Lymphocytes total CD4: 2021/mm3
Lymphocytes total CD8: 617/mm3
Lymphocytes total B: 337/mm3
Lymphocytes most recent: 24/07/02
Lymphocytes total lymphocytes: 1512/mm3
Lymphocytes total CD4: 650/mm3
Lymphocytes total CD8: 227/mm3
Lymphocytes total B: 227/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 24/07/02: low
Lymphocytes anti-CD3, date: 24/07/02: low
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: constant
Treatment date started: 15/02/97
Treatment No still on IVIG
Treatment Still on IVIG
Treatment responding to infection: good
Treatment responding to autoimmunity: good
Treatment responding to thrombocytopenia: marginal
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL: constant
Treatment No bone marrow transplatation
//
ID E31K(2); standard; MUTATION;
Accession W0043
Systematic name g.31742G>A, c.91G>A, r.91g>a, p.Glu31Lys
Original code W1
Description A point mutation in the exon 1 leading to an amino acid
Description change
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31742
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 125
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 31
Feature /change: E -> K
Diagnosis Wiskott Aldrich syndrome
Age 2
Sex XY
//
ID E31K(3a); standard; MUTATION;
Accession W0093
Systematic name g.31742G>A, c.91G>A, r.91g>a, p.Glu31Lys
Original code P3-1
Description A point mutation in the exon 1 leading to an amino acid
Description change
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20232122
RefAuthors Lee, W. I., Huang, J. L., Jaing, T. H., Wu, K. H., Chien,
RefAuthors Y. H., Chang, K. W.
RefTitle Clinical aspects and genetic analysis of taiwanese
RefTitle patients with wiskott-aldrich syndrome protein mutation:
RefTitle the first identification of x-linked thrombocytopenia in
RefTitle the chinese with novel mutations.
RefLoc J Clin Immunol:593-601 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31742
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 125
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 31
Feature /change: E -> K
Diagnosis Date: 1993
Diagnosis Wiskott Aldrich syndrome
Deceased Cause of death: EBV-associated lymphoproliferative
Deceased disorder
Symptoms Infections:
Symptoms Bacterial: sepsis; meningitis; chronic diarrhoea
Symptoms Skin infections; sinopulmonary infections; orchitis
Symptoms Autoimmune disease:
Symptoms hemolytic anemia
IgA 112 IU/L
IgE 657 IU/L, compare with normal for age: high
IgG 1,352 mg/dL
IgM 42 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 41 %
Lymphocytes CD8: 9 %
Treatment Bone marrow transplatation: Yes: Date: 1993
Treatment Donor: matched sibling
Age 6 mo
Sex XY
Ethnic origin Taiwan
Family history Inherited
Relative WASbase; W0094 sibling
Relative WASbase; W0096 cousin
Relative WASbase; W0097 cousin
Relative WASbase; W0098 cousin
Relative WASbase; W0099 cousin
//
ID E31K(3b); standard; MUTATION;
Accession W0094
Systematic name g.31742G>A, c.91G>A, r.91g>a, p.Glu31Lys
Original code P3-2
Description A point mutation in the exon 1 leading to an amino acid
Description change
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20232122
RefAuthors Lee, W. I., Huang, J. L., Jaing, T. H., Wu, K. H., Chien,
RefAuthors Y. H., Chang, K. W.
RefTitle Clinical aspects and genetic analysis of taiwanese
RefTitle patients with wiskott-aldrich syndrome protein mutation:
RefTitle the first identification of x-linked thrombocytopenia in
RefTitle the chinese with novel mutations.
RefLoc J Clin Immunol:593-601 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31742
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 125
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 31
Feature /change: E -> K
Diagnosis Date: 2006
Diagnosis Wiskott Aldrich syndrome
Symptoms Infections:
Symptoms Recurrent sinopulmonary infections
IgA 71 IU/L
IgE 5 IU/L
IgG 1,190 mg/dL
IgM 44 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 49%
Lymphocytes CD8: 6%
Treatment Bone marrow transplatation: Yes: Date: 2006
Treatment Donor: mismatched unrelated donor
Treatment Outcome: alive
Treatment T-cell chimerism: mixed
Age 1 mo
Sex XY
Ethnic origin Taiwan
Family history Inherited
Relative WASbase; W0093 sibling
Relative WASbase; W0096 cousin
Relative WASbase; W0097 cousin
Relative WASbase; W0098 cousin
Relative WASbase; W0099 cousin
//
ID F36X(1); standard; MUTATION;
Accession W0104
Systematic name g.31758_31759delTT, c.107_108delTT, r.107_108deluu,
Systematic name p.Phe36X
Original code P1
Description A deletion mutation in the exon 1 leading to a premature
Description stop codon
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 31758..31759
Feature /change: -tt
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 141..142
Feature /codon: ttt -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 36
Feature /change: F -> X
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 33,000/µl
Symptoms Bloody stool; Bleeding; Eczema
Symptoms Autoimmune disease:
Symptoms hemolytic anemia
Age 2 mo
Sex XY
Ethnic origin China
Family history De novo
//
ID L39P(1); standard; MUTATION; WH1
Accession W0001
Systematic name g.31767T>C, c.150T>C, p.L39P
Original code BSW300
Description Point mutation in the exon 1 leading to an amino acid
Description change in the WH1 domain
Date 08-Nov-2002 (Rel. 7, Created)
Date 08-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (08-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31767
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 150
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 39
Feature /change: L -> P
Feature /domain: WH1
mRNA level N.D.
Protein level Reduced
Protein struct L 39 P
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 04/04/97
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 5; Size: 4.7
Symptoms Most recent: Date: 08/09/97; Count: 184
Symptoms Anti-platelet antibodies demonstrated:not done
Symptoms Evidence for accessory spleen:yes
Symptoms Eczema: mild
Symptoms Infections: severe
Symptoms Bacterial: pneumonia
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 04/04/97
IgA 195 mg/dL, compare with normal for age: normal
IgE 271 kU/L, compare with normal for age: high
IgG 1126 mg/dL, compare with normal for age: normal
IgM 270 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: A Rh+
Response Isoagglutinins: anti-A: no; anti-B: yes
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 04/04/97
Lymphocytes total lymphocytes: 2376/mm3
Lymphocytes total CD4: 1140/mm3
Lymphocytes total CD8: 451/mm3
Lymphocytes most recent: 08/09/97
Lymphocytes total lymphocytes: 4712/mm3
Lymphocytes total CD4: 1743/mm3
Lymphocytes total CD8: 1272/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 07/04/97: normal
Lymphocytes anti-CD3, date: 07/04/97: normal
Lymphocytes antigens: not done
Lymphocytes alloantigens: absent
Treatment Splenectomy: yes; Date: 18/04/97
Treatment IVIG: intermittent
Treatment date started:
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment antiviral: constant
Treatment No bone marrow transplatation
//
ID L39P(2); standard; MUTATION; WH1
Accession W0002
Systematic name g.31767T>C, c.150T>C, p.L39P
Original code BSW102
Description Point mutation in the exon 1 leading to an amino acid
Description change in the WH1 domain
Date 08-Nov-2002 (Rel. 7, Created)
Date 08-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (08-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31767
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 150
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 39
Feature /change: L -> P
Feature /domain: WH1
mRNA level N.D.
Protein level Reduced
Protein struct L 39 P
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 04/04/97
Diagnosis X-linked thrombocytopenia
Symptoms Platelets
Symptoms At date of diagnosis: Count: 8; Size: 5.4
Symptoms Most recent: Date: 29/04/01; Count: 220
Symptoms After splenectomy: Count: 150
Symptoms Anti-platelet antibodies demonstrated:not done
Symptoms Evidence for accessory spleen:yes
Symptoms Eczema: mild/moderate
Symptoms Infections: none
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 04/04/97
IgA 266 mg/dL, compare with normal for age: high
IgE 79.6 kU/L, compare with normal for age: normal
IgG 871 mg/dL, compare with normal for age: normal
IgM 23 mg/dL, compare with normal for age: low
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: A Rh+
Response Isoagglutinins: anti-A: NO; anti-B: YES
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 04/04/97
Lymphocytes total lymphocytes: 3132/mm3
Lymphocytes total CD4: 1002/mm3
Lymphocytes total CD8: 689/mm3
Lymphocytes total B: 156/mm3
Lymphocytes most recent: 29/04/01
Lymphocytes total lymphocytes: 677/mm3
Lymphocytes total CD4: 75/mm3
Lymphocytes total CD8: 135/mm3
Lymphocytes total B: 102/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 29/04/01: low
Lymphocytes anti-CD3, date: 29/04/01: low
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: yes; Date: 09/04/97
Treatment IVIG: intermittent
Treatment date started:
Treatment No still on IVIG
Treatment Still on IVIG
Treatment responding to infection: good
Treatment responding to autoimmunity: good
Treatment responding to thrombocytopenia: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL: constant
//
ID L39P(3a); standard; MUTATION; WH1
Accession W0134
Systematic name g.31767T>C, c.116T>C, r.116u>c, p.Leu39Pro
Description A point mutation in the exon 1 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31767
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 150
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 39
Feature /change: L -> P
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0135
Relative WASbase; W0136
//
ID L39P(3b); standard; MUTATION; WH1
Accession W0135
Systematic name g.31767T>C, c.116T>C, r.116u>c, p.Leu39Pro
Description A point mutation in the exon 1 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31767
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 150
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 39
Feature /change: L -> P
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0134
Relative WASbase; W0136
//
ID L39P(3c); standard; MUTATION; WH1
Accession W0136
Systematic name g.31767T>C, c.116T>C, r.116u>c, p.Leu39Pro
Description A point mutation in the exon 1 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31767
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 150
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 39
Feature /change: L -> P
Feature /domain: WH1
Ethnic origin US
Relative Description of pedigree:WASbase; W013
Relative WASbase; W0134
Relative WASbase; W0135
//
ID L39P(4); standard; MUTATION; WH1
Accession W0137
Systematic name g.31767T>C, c.116T>C, r.116u>c, p.Leu39Pro
Description A point mutation in the exon 1 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31767
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 150
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 39
Feature /change: L -> P
Feature /domain: WH1
Ethnic origin Germany
//
ID R41X(1); standard; MUTATION; WH1
Accession W0016
Systematic name g.31772C>T, c.155C>T, p.R41X
Original code BSW071
Description Point mutation in the exon 1 leading to a premature stop
Description codon in the WH1 domain
Date 18-Nov-2002 (Rel. 7, Created)
Date 18-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (18-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31772
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 155
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 41
Feature /change: R -> X
Feature /domain: WH1
mRNA level N.D.
Protein level Absent
Protein struct R 41 X
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 20/06/93
Diagnosis Wiskott Aldrich syndrome
Deceased Age at death: 6; Cause of death: SEPSIS
Symptoms Platelets
Symptoms At date of diagnosis: Count: 3; Size: 5.3
Symptoms Most recent: Date: 6/11/95; Count: 354; Size: 6.6
Symptoms Anti-platelet antibodies demonstrated:no
Symptoms Evidence for accessory spleen:yes
Symptoms Eczema: severe (generalized)
Symptoms Infections: mild
Symptoms Autoimmune disease: yes
Symptoms vasculitis; ULCERATIVE COLITIS
Symptoms Malignancy: no
IgA 150 mg/dL, compare with normal for age: normal
IgE 1000 kU/L, compare with normal for age: high
IgM 14 mg/dL, compare with normal for age: low
Response Antibody responses
Response D/T, date: 9/11/95: normal
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: 0 Rh+
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 20/06/93
Lymphocytes total lymphocytes: 2848/mm3
Lymphocytes total CD4: 1652/mm3
Lymphocytes total CD8: 432/mm3
Lymphocytes most recent: 02/10/95
Lymphocytes total lymphocytes: 7600/mm3
Lymphocytes total CD4: 2432/mm3
Lymphocytes total CD8: 152/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 06/10/95: normal
Lymphocytes anti-CD3, date: 06/10/95: low
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: yes; Date: 12/01/94
Treatment IVIG: constant
Treatment date started: 25/06/93
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL, ANTIFUNGAL: constant
Treatment Bone marrow transplatation: Yes: Date: 23/01/97
Treatment Donor: MUD
Treatment Source: full marrow
Treatment T-cell chimerism: donor
//
ID R41X(2); standard; MUTATION; WH1
Accession W0024
Systematic name g.31772C>T, c.155C>T, p.R41X
Original code BSW301
Description Point mutation in the exon 1 leading to a premature stop
Description codon in the WH1 domain
Date 05-Dec-2002 (Rel. 7, Created)
Date 05-Dec-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (05-Dec-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31772
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 155
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 41
Feature /change: R -> X
Feature /domain: WH1
mRNA level N.D.
Protein level N.D.
Protein struct R 41 X
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 11/04/94
Diagnosis Wiskott Aldrich syndrome
Deceased Age at death: 8 months; Cause of death: INTERSTITIAL
Deceased PNEUMONIA
Symptoms Platelets
Symptoms At date of diagnosis: Count: 8; Size: 5.1
Symptoms Most recent: Date: 18/05/94; Count: 3
Symptoms After splenectomy: Count: 50
Symptoms Anti-platelet antibodies demonstrated:no
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: never
Symptoms Infections: severe
Symptoms Viral: CMV
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 11/04/94
IgA 33 mg/dL, compare with normal for age: low
IgE >2000 kU/L, compare with normal for age: high
IgM 459 mg/dL, compare with normal for age: high
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: A Rh +
Response Isoagglutinins: anti-A: NO; anti-B: YES
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 11/04/94
Lymphocytes total lymphocytes: 1262/mm3
Lymphocytes total CD4: 655/mm3
Lymphocytes total CD8: 163/mm3
Lymphocytes most recent: 17/05/94
Lymphocytes total lymphocytes: 5577/mm3
Lymphocytes total CD4: 1171/mm3
Lymphocytes total CD8: 2788/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 02/05/94: normal
Lymphocytes anti-CD3: absent
Lymphocytes antigens: not done
Lymphocytes alloantigens, date: 04/05/94: normal
Treatment Splenectomy: yes; Date: 24/02/94
Treatment IVIG: constant
Treatment date started: 06/11/93
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL, ANTIFUNGAL: constant
Treatment No bone marrow transplatation
//
ID R41X(3); standard; MUTATION; WH1
Accession W0035
Systematic name g.31772C>T, c.121C>T, r.121c>u, p.Arg41X
Original code Case5
Description A point mutation in the exon 1 leading to a premature stop
Description codon in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15497008
RefAuthors Chien, Y. H., Hwu, W. L., Ariga, T., Chang, K. W., Yang,
RefAuthors Y. H., Lin, K. H., Chiang, B. L.
RefTitle Molecular diagnosis of wiskott-aldrich syndrome in taiwan.
RefLoc J Microbiol Immunol Infect:276-281 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31772
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 155
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 41
Feature /change: R -> X
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 25,000/µL
IgA 43 mg/dL
IgG 1058 mg/dL
IgM 80 mg/dL
Treatment Bone marrow transplatation: Yes
Treatment Donor: matched sibling
Age 7 mo
Ethnic origin Taiwan
Family history De novo
//
ID R41X(4); standard; MUTATION; WH1
Accession W0056
Systematic name g.31772C>T, c.121C>T, r.121c>u, p.Arg41X
Original code W16
Description A point mutation in the exon 1 leading to a premature stop
Description codon in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31772
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 155
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 41
Feature /change: R -> X
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 0.25
Sex XY
//
ID R41X(5); standard; MUTATION; WH1
Accession W0095
Systematic name g.31772C>T, c.121C>T, r.121c>u, p.Arg41X
Original code P5
Description A point mutation in the exon 1 leading to a premature stop
Description codon in the WH1 domain
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20232122
RefAuthors Lee, W. I., Huang, J. L., Jaing, T. H., Wu, K. H., Chien,
RefAuthors Y. H., Chang, K. W.
RefTitle Clinical aspects and genetic analysis of taiwanese
RefTitle patients with wiskott-aldrich syndrome protein mutation:
RefTitle the first identification of x-linked thrombocytopenia in
RefTitle the chinese with novel mutations.
RefLoc J Clin Immunol:593-601 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31772
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 155
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 41
Feature /change: R -> X
Feature /domain: WH1
Diagnosis Date: 2001
Diagnosis Wiskott Aldrich syndrome
Deceased Age at death: 6 years
Symptoms Infections:
Symptoms Recurrent sinopulmonary infections
IgA 115 IU/L
IgE 692 IU/L, compare with normal for age: high
IgG 1,171 mg/dL
IgM 38 mg/dL, compare with normal for age: low
Lymphocytes At diagnosis:
Lymphocytes CD4: 32%
Lymphocytes CD8: 24%
Age 3 days
Sex XY
Ethnic origin Taiwan
Family history De novo
//
ID R41X(6); standard; MUTATION; WH1
Accession W0100
Systematic name g.31772C>T, c.121C>T, r.121c>u, p.Arg41X
Original code P6
Description A point mutation in the exon 1 leading to a premature stop
Description codon in the WH1 domain
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20232122
RefAuthors Lee, W. I., Huang, J. L., Jaing, T. H., Wu, K. H., Chien,
RefAuthors Y. H., Chang, K. W.
RefTitle Clinical aspects and genetic analysis of taiwanese
RefTitle patients with wiskott-aldrich syndrome protein mutation:
RefTitle the first identification of x-linked thrombocytopenia in
RefTitle the chinese with novel mutations.
RefLoc J Clin Immunol:593-601 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31772
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 155
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 41
Feature /change: R -> X
Feature /domain: WH1
Diagnosis Date: 2007
Diagnosis Wiskott Aldrich syndrome
Deceased Age at death: 11 mo
Symptoms Infections:
Symptoms Viral: CMV
Symptoms Recurrent sinopulmonary infections; sepsis;
Symptoms Failure to thrive
Symptoms Autoimmune disease:
Symptoms EBV associated
IgA 167 IU/L
IgE 7,870 IU/L, compare with normal for age: high
IgG 1,870 mg/dL
IgM 128 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 25%
Lymphocytes CD8: 30%
Age 3 mo
Sex XY
Ethnic origin Taiwan
Family history De novo
//
ID R41X(7); standard; MUTATION; WH1
Accession W0105
Systematic name g.31772C>T, c.121C>T, r.121c>u, p.Arg41X
Original code P2
Description A point mutation in the exon 1 leading to a premature stop
Description codon in the WH1 domain
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31772
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 155
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 41
Feature /change: R -> X
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 4,000/µl
Symptoms Eczema; Bloody stool; bleeding;
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 229 mg/dL
IgE 1053 IU/L
IgG 1,612 mg/dL
IgM 62 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 25%
Lymphocytes CD8: 34%
Age 1.2
Sex XY
Ethnic origin China
Family history De novo
//
ID R41X(8); standard; MUTATION; WH1
Accession W0106
Systematic name g.31772C>T, c.121C>T, r.121c>u, p.Arg41X
Original code P3
Description A point mutation in the exon 1 leading to a premature stop
Description codon in the WH1 domain
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31772
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 155
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 41
Feature /change: R -> X
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 24,000/µl
Symptoms Eczema; Bloody stool; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 56 mg/dL
IgE 56.30 IU/L
IgG 319 mg/dL
IgM 71 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 38%
Lymphocytes CD8: 9%
Age 2 mo
Sex XY
Ethnic origin China
Family history Inherited
//
ID T45K(1); standard; MUTATION; WH1
Accession W0107
Systematic name g.32082C>A, c.134C>A, r.134c>a, p.Thr45Lys
Original code P4
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> aag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> K
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 38,000/µl
Symptoms Eczema; Bloody stool; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 191 mg/dL
IgE 391 IU/L
IgG 1,276 mg/dL
IgM 62 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 36%
Lymphocytes CD8: 26%
Age 11 mo
Sex XY
Ethnic origin China
Family history De novo
//
ID T45M(1); standard; MUTATION; WH1
Accession W0044
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Original code W2
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 2
Sex XY
//
ID T45M(2); standard; MUTATION; WH1
Accession W0138
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Ethnic origin Japan
//
ID T45M(3); standard; MUTATION; WH1
Accession W0139
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Ethnic origin Japan
//
ID T45M(4); standard; MUTATION; WH1
Accession W0140
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Ethnic origin Japan
//
ID T45M(5); standard; MUTATION; WH1
Accession W0141
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Ethnic origin UK
//
ID T45M(6); standard; MUTATION; WH1
Accession W0142
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Ethnic origin US
//
ID T45M(7); standard; MUTATION; WH1
Accession W0143
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Ethnic origin US
//
ID T45M(8); standard; MUTATION; WH1
Accession W0144
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Ethnic origin Germany
//
ID T45M(9); standard; MUTATION; WH1
Accession W0145
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Ethnic origin Sweden
//
ID T45M(10); standard; MUTATION; WH1
Accession W0146
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Ethnic origin Sweden
//
ID T45M(11); standard; MUTATION; WH1
Accession W0147
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Ethnic origin Sweden
//
ID T45M(12); standard; MUTATION; WH1
Accession W0148
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Ethnic origin Sweden
//
ID T45M(13); standard; MUTATION; WH1
Accession W0149
Systematic name g.32082C>T, c.134C>T, r.134c>u, p.Thr45Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32082
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 168
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 45
Feature /change: T -> M
Feature /domain: WH1
Ethnic origin Sweden
//
ID A47D(1); standard; MUTATION; WH1
Accession W0150
Systematic name g.32088C>A, c.140C>A, r.140c>a, p.Ala47Asp
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32088
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 174
Feature /codon: gcc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 47
Feature /change: A -> D
Feature /domain: WH1
Ethnic origin US
//
ID T48A(1); standard; MUTATION; WH1
Accession W0151
Systematic name g.32090A>G, c.142A>G, r.142a>g, p.Thr48Ala
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32090
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 176
Feature /codon: act -> gct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 48
Feature /change: T -> A
Feature /domain: WH1
Ethnic origin Japan
//
ID T48I(1); standard; MUTATION; WH1
Accession W0152
Systematic name g.32091C>T, c.143C>T, r.143c>u, p.Thr48Ile
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32091
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 177
Feature /codon: act -> att; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 48
Feature /change: T -> I
Feature /domain: WH1
Ethnic origin US
//
ID V51F(1); standard; MUTATION; WH1
Accession W0045
Systematic name g.32099G>T, c.151G>T, r.151g>u, p.Val51Phe
Original code W3
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32099
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 185
Feature /codon: gtt -> ttt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 51
Feature /change: V -> F
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 2
Sex XY
//
ID A56V(1); standard; MUTATION; WH1
Accession W0026
Systematic name g.32115C>T, c.201C>T, p.A56V
Description Point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 12-Mar-2003 (Rel. 7, Created)
Date 12-Mar-2003 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (12-Mar-2003) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32115
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 201
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 56
Feature /change: A -> V
Feature /domain: WH1
mRNA level N.D.
Protein level Reduced
Protein struct A 56 D
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 05/05/90
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 68; Size: 4.7
Symptoms Most recent: Date: 14/06/02; Count: 38
Symptoms Anti-platelet antibodies demonstrated:no
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: never
Symptoms Infections: none
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 05/05/90
IgA 196 mg/dL, compare with normal for age: normal
IgE 1080 kU/L, compare with normal for age: high
IgG 1020 mg/dL, compare with normal for age: normal
IgM 273 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: AB Rh +
Lymphocytes Lymphocytes
Lymphocytes most recent: 9/04/01
Lymphocytes total lymphocytes: 1635/mm3
Lymphocytes total CD4: 735/mm3
Lymphocytes total CD8: 310/mm3
Lymphocytes total B: 245/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 24/06/02: normal
Lymphocytes anti-CD3, date: 24/06/02: normal
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: intermittent
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment No bone marrow transplatation
//
ID A56V(2); standard; MUTATION; WH1
Accession W0046
Systematic name g.32115C>T, c.167C>T, r.167c>u, p.Ala56Val
Original code W4
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32115
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 201
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 56
Feature /change: A -> V
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 3.5
Sex XY
//
ID A56V(3); standard; MUTATION; WH1
Accession W0153
Systematic name g.32115C>T, c.167C>T, r.167c>u, p.Ala56Val
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32115
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 201
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 56
Feature /change: A -> V
Feature /domain: WH1
Ethnic origin US
//
ID A56V(4a); standard; MUTATION; WH1
Accession W0154
Systematic name g.32115C>T, c.167C>T, r.167c>u, p.Ala56Val
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32115
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 201
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 56
Feature /change: A -> V
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0155
//
ID A56V(4b); standard; MUTATION; WH1
Accession W0155
Systematic name g.32115C>T, c.167C>T, r.167c>u, p.Ala56Val
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32115
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 201
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 56
Feature /change: A -> V
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0154
//
ID P58A(1); standard; MUTATION; WH1
Accession W0047
Systematic name g.32120C>G, c.172C>G, r.172c>g, p.Pro58Ala
Original code W5
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32120
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 206
Feature /codon: ccc -> gcc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 58
Feature /change: P -> A
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 6
Sex XY
//
ID P58R(1a); standard; MUTATION; WH1
Accession W0158
Systematic name g.32121C>G, c.173C>G, r.173c>g, p.Pro58Arg
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32121
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 207
Feature /codon: ccc -> cgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 58
Feature /change: P -> R
Feature /domain: WH1
Ethnic origin Italy
Relative WASbase; W0159
Relative WASbase; W0160
//
ID P58R(1b); standard; MUTATION; WH1
Accession W0159
Systematic name g.32121C>G, c.173C>G, r.173c>g, p.Pro58Arg
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32121
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 207
Feature /codon: ccc -> cgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 58
Feature /change: P -> R
Feature /domain: WH1
Ethnic origin Italy
Relative WASbase; W0158
Relative WASbase; W0160
//
ID P58R(1c); standard; MUTATION; WH1
Accession W0160
Systematic name g.32121C>G, c.173C>G, r.173c>g, p.Pro58Arg
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32121
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 207
Feature /codon: ccc -> cgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 58
Feature /change: P -> R
Feature /domain: WH1
Ethnic origin Italy
Relative WASbase; W0158
Relative WASbase; W0159
//
ID P58T(1a); standard; MUTATION; WH1
Accession W0156
Systematic name g.32120C>A, c.172C>A, r.172c>a, p.Pro58Thr
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32120
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 206
Feature /codon: ccc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 58
Feature /change: P -> T
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0157
//
ID P58T(1b); standard; MUTATION; WH1
Accession W0157
Systematic name g.32120C>A, c.172C>A, r.172c>a, p.Pro58Thr
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32120
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 206
Feature /codon: ccc -> acc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 58
Feature /change: P -> T
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0156
//
ID E67K(1); standard; MUTATION; WH1
Accession W0161
Systematic name g.32147G>A, c.199G>A, r.199g>a, p.Glu67Lys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32147
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 233
Feature /codon: gag -> aag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 67
Feature /change: E -> K
Feature /domain: WH1
Ethnic origin France
Relative Description of pedigree:
//
ID E67X(1); standard; MUTATION; WH1
Accession W0029
Systematic name g.32147G>T, c.199G>T, r.199g>u, p.Glu67X
Original code YU004
Description A point mutation in the exon 2 leading to a premature stop
Description codon in the WH1 domain
Date 26-Nov-2003 (Rel. 7, Created)
Date 26-Nov-2003 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (26-Nov-2003) to WASPbase.
RefLoc Luigi D. Notarangelo; Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy; Tel 339303995715; Fax 339303388099; e-mail
RefLoc notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32147
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 233
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 67
Feature /change: E -> X
Feature /domain: WH1
mRNA level N.D.
Protein level N.D.
Protein struct E67X
Sex M
Ethnic origin Caucasoid; YUGOSLAVIA
Diagnosis Date: 30/07/03
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 8; Size: 5.0
Symptoms Most recent: Date: 11/11/03; Count: 23; Size: 5.2
Symptoms Anti-platelet antibodies demonstrated:no
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: mild/moderate
Symptoms Infections: severe
Symptoms Viral: CMV; EBV
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 21/07/03
IgA 78 mg/dL, compare with normal for age: low
IgE 3049 kU/L, compare with normal for age: high
IgG 880 mg/dL, compare with normal for age: normal
IgM 206 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: AB
Response Isoagglutinins: anti-A: NO; anti-B: NO
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 02/10/03
Lymphocytes total lymphocytes: 3110/mm3
Lymphocytes total CD4: 620/mm3
Lymphocytes total CD8: 436/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: not done
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: intermittent
Treatment date started: 25/07/2003
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: good
Treatment responding to autoimmunity: no effect
Treatment responding to thrombocytopenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment No bone marrow transplatation
//
ID C73Y(1); standard; MUTATION; WH1
Accession W0004
Systematic name g.32166G>A, c.252G>A, p.C73Y
Original code BSW072
Description Point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 11-Nov-2002 (Rel. 7, Created)
Date 11-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (11-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32166
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 252
Feature /codon: tgc -> tac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 73
Feature /change: C -> Y
Feature /domain: WH1
mRNA level N.D.
Protein struct C 73 Y
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 31/05/96
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 30
Symptoms Most recent: Date: 14/01/2001; Count: 11
Symptoms Anti-platelet antibodies demonstrated:not done
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: mild
Symptoms Infections: none
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 31/05/96
IgA 140 mg/dL, compare with normal for age: normal
IgE 23 kU/L, compare with normal for age: normal
IgG 482 mg/dL, compare with normal for age: normal
IgM 14 mg/dL, compare with normal for age: low
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: A+
Response Isoagglutinins: anti-A: NO; anti-B: YES
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 31/05/96
Lymphocytes total lymphocytes: 2497/mm3
Lymphocytes total CD4: 120/mm3
Lymphocytes total CD8: 18/mm3
Lymphocytes total B: 600/mm3
Lymphocytes most recent: 14/01/01
Lymphocytes total lymphocytes: 1320/mm3
Lymphocytes total CD4: 400/mm3
Lymphocytes total CD8: 93/mm3
Lymphocytes total B: 172/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 23/09/96: low
Lymphocytes anti-CD3, date: 23/09/96: low
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: constant
Treatment date started: 11/06/96
Treatment Still on IVIG
Treatment responding to infection: no effect
Treatment responding to autoimmunity: no effect
Treatment responding to thrombocytopenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL, ANTIFUNGAL: constant
Treatment No bone marrow transplatation
//
ID C73Y(2a); standard; MUTATION; WH1
Accession W0048
Systematic name g.32166G>A, c.218G>A, r.218g>a, p.Cys73Tyr
Original code W6.1
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32166
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 252
Feature /codon: tgc -> tac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 73
Feature /change: C -> Y
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 3
Sex XY
Relative WASbase; W0049 unknown
//
ID C73Y(2b); standard; MUTATION; WH1
Accession W0049
Systematic name g.32166G>A, c.218G>A, r.218g>a, p.Cys73Tyr
Original code W6.2
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32166
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 252
Feature /codon: tgc -> tac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 73
Feature /change: C -> Y
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 3
Sex XY
Relative WASbase; W0048 unknown
//
ID V75L(1); standard; MUTATION; WH1
Accession W0181
Systematic name g.32171G>T, c.223G>T, r.223g>u, p.Val75Leu
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> ttg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> L
Feature /domain: WH1
Ethnic origin US
//
ID V75M(1); standard; MUTATION; WH1
Accession W0030
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 08-Jan-2004 (Rel. 7, Created)
Date 08-Jan-2004 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (08-Jan-2004) to WASPbase.
RefLoc Luigi D. Notarangelo; Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy; Tel 339303995715; Fax 339303388099; e-mail
RefLoc notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
mRNA level N.D.
Protein level N.D.
Protein struct V75M
Sex M
Ethnic origin Caucasoid
Diagnosis Date: 20/10/03
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 26000; Size: 5.8
Symptoms Most recent: Date: 25/12/03; Count: 92000; Size: 5.6
Symptoms Anti-platelet antibodies demonstrated:yes
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: never
Symptoms Infections: mild
Symptoms Autoimmune disease: yes
Symptoms ITP
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 18/10/03
IgA 310 mg/dL, compare with normal for age: normal
IgE 4.4 kU/L, compare with normal for age: normal
IgG 4550 mg/dL, compare with normal for age: high
IgM 700 mg/dL, compare with normal for age: high
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes most recent: 17/12/03
Lymphocytes total lymphocytes: 5500/mm3
Lymphocytes total CD4: 2464/mm3
Lymphocytes total CD8: 644/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: not done
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: never
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment No bone marrow transplatation
//
ID V75M(2); standard; MUTATION; WH1
Accession W0050
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Original code W7
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 4
Sex XY
//
ID V75M(3); standard; MUTATION; WH1
Accession W0051
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Original code W8
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 0.5
Sex XY
//
ID V75M(4a); standard; MUTATION; WH1
Accession W0162
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin France
Relative WASbase; W0163
//
ID V75M(4b); standard; MUTATION; WH1
Accession W0163
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin France
Relative WASbase; W0162
//
ID V75M(5); standard; MUTATION; WH1
Accession W0164
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin France
//
ID V75M(6); standard; MUTATION; WH1
Accession W0165
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin France
//
ID V75M(7); standard; MUTATION; WH1
Accession W0166
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin France
//
ID V75M(8); standard; MUTATION; WH1
Accession W0167
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin France
//
ID V75M(9a); standard; MUTATION; WH1
Accession W0168
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin UK
Relative WASbase; W0169
//
ID V75M(9b); standard; MUTATION; WH1
Accession W0169
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin UK
Relative WASbase; W0168
//
ID V75M(10a); standard; MUTATION; WH1
Accession W0170
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin UK
Relative WASbase; W0171
//
ID V75M(10b); standard; MUTATION; WH1
Accession W0171
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin UK
Relative WASbase; W0170
//
ID V75M(11); standard; MUTATION; WH1
Accession W0172
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin UK
//
ID V75M(12a); standard; MUTATION; WH1
Accession W0173
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0174
//
ID V75M(12b); standard; MUTATION; WH1
Accession W0174
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0175
//
ID V75M(13a); standard; MUTATION; WH1
Accession W0175
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0176
//
ID V75M(13b); standard; MUTATION; WH1
Accession W0176
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0175
//
ID V75M(14); standard; MUTATION; WH1
Accession W0177
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin US
//
ID V75M(15a); standard; MUTATION; WH1
Accession W0178
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin Germany
Relative WASbase; W0179
//
ID V75M(15b); standard; MUTATION; WH1
Accession W0179
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin Germany
Relative WASbase; W0178
//
ID V75M(16); standard; MUTATION; WH1
Accession W0180
Systematic name g.32171G>A, c.223G>A, r.223g>a, p.Val75Met
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32171
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 257
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 75
Feature /change: V -> M
Feature /domain: WH1
Ethnic origin Spain
//
ID K76T(1); standard; MUTATION; WH1
Accession W0182
Systematic name g.32175A>C, c.227A>C, r.227a>c, p.Lys76Thr
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32175
Feature /change: a -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 261
Feature /codon: aag -> acg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 76
Feature /change: K -> T
Feature /domain: WH1
Ethnic origin US
//
ID K76T(2); standard; MUTATION; WH1
Accession W0183
Systematic name g.32175A>C, c.227A>C, r.227a>c, p.Lys76Thr
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32175
Feature /change: a -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 261
Feature /codon: aag -> acg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 76
Feature /change: K -> T
Feature /domain: WH1
Ethnic origin US
//
ID D77G(1); standard; MUTATION; WH1
Accession W0006
Systematic name g.32178A>G, c.264A>G, p.D77G
Description Point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 12-Nov-2002 (Rel. 7, Created)
Date 12-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (12-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32178
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 264
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 77
Feature /change: D -> G
Feature /domain: WH1
mRNA level N.D.
Protein level Reduced
Protein struct D 77 G
Sex M
Ethnic origin Caucasoid; ALBANIA
Diagnosis Date: 12/05/97
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 37; Size: 4
Symptoms Most recent: Date: 28/06/01; Count: 189
Symptoms After splenectomy: Count: 165; Size: 4
Symptoms Anti-platelet antibodies demonstrated:no
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: mild/moderate
Symptoms Infections: none
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 27/07/97
IgA 122 mg/dL, compare with normal for age: high
IgE 110.3 kU/L, compare with normal for age: high
IgG 680 mg/dL, compare with normal for age: normal
IgM 60 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: A Rh+
Response Isoagglutinins: anti-A: NO; anti-B: YES
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 27/09/99
Lymphocytes total lymphocytes: 2861/mm3
Lymphocytes total CD4: 1170/mm3
Lymphocytes total CD8: 377/mm3
Lymphocytes total B: 544/mm3
Lymphocytes most recent: 23/04/01
Lymphocytes total lymphocytes: 2018/mm3
Lymphocytes total CD4: 807/mm3
Lymphocytes total CD8: 202/mm3
Lymphocytes total B: 187/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 23/04/01: normal
Lymphocytes anti-CD3, date: 23/04/01: normal
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: yes; Date: 10/04/00
Treatment IVIG: constant
Treatment date started: 02/07/97
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: no effect
Treatment responding to autoimmunity: no effect
Treatment responding to thrombocytopenia: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL: constant
Treatment No bone marrow transplatation
//
ID D77G(2); standard; MUTATION; WH1
Accession W0184
Systematic name g.32178A>G, c.230A>G, r.230a>g, p.Asp77Gly
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32178
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 264
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 77
Feature /change: D -> G
Feature /domain: WH1
Ethnic origin Italy
//
ID D77H(1); standard; MUTATION; WH1
Accession W0017
Systematic name g.32177G>C, c.263G>C, p.D77H
Original code BSW020
Description Point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 21-Nov-2002 (Rel. 7, Created)
Date 21-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (21-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32177
Feature /change: g -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 263
Feature /codon: gat -> cat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 77
Feature /change: D -> H
Feature /domain: WH1
mRNA level N.D.
Protein level Reduced
Protein struct D 77 H
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 20/04/99
Diagnosis X-linked thrombocytopenia
Symptoms Platelets
Symptoms At date of diagnosis: Count: 41
Symptoms Most recent: Date: 08/04/02; Count: 29; Size: 4.8
Symptoms Anti-platelet antibodies demonstrated:yes
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: never
Symptoms Infections: mild
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 24/09/98
IgA 146 mg/dL, compare with normal for age: normal
IgE 0.086 kU/L, compare with normal for age: normal
IgG 1190 mg/dL, compare with normal for age: normal
IgM 142 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: A Rh +
Response Isoagglutinins: anti-A: NO; anti-B: YES
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 24/09/98
Lymphocytes total lymphocytes: 2112/mm3
Lymphocytes total CD4: 1469/mm3
Lymphocytes total CD8: 582/mm3
Lymphocytes most recent: 08/04/02
Lymphocytes total lymphocytes: 2394/mm3
Lymphocytes total CD4: 1054/mm3
Lymphocytes total CD8: 502/mm3
Lymphocytes total B: 388/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 08/04/02: normal
Lymphocytes anti-CD3, date: 08/04/02: normal
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: intermittent
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment Other:never
Treatment No bone marrow transplatation
//
ID #N78X126(1); standard; MUTATION; WH1
Accession W0088
Systematic name g.32180delA, c.232delA, r.232dela, p.Asn78fsX49
Original code III.1
Description A frame shift deletion mutation in the exon 2 leading to a
Description premature stop codon in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17390083
RefAuthors Andreu, N., Matamoros, N., Escudero, A., Fillat, C.
RefTitle Two novel mutations identified in the wiskott-aldrich
RefTitle syndrome protein gene cause wiskott-aldrich syndrome and
RefTitle thrombocytopenia.
RefLoc Int J Mol Med:777-782 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 32180
Feature /change: -a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 266
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 78
Feature /change: N ->
Feature /change: TPRSPTSSAF TAFRLVGCSG NRSCTHSLST PPPPPSSTPS
Feature /change: LEMTAKRGX
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 38,000/mm3
Symptoms Eczema
Symptoms Autoimmune disease:
Symptoms Thrombocytopenia
Age 4 mo
Sex XY
Comment Patient's mother is carrier of the same mutation.
//
ID Q80R(1); standard; MUTATION; WH1
Accession W0185
Systematic name g.32187A>G, c.239A>G, r.239a>g, p.Gln80Arg
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32187
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 273
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 80
Feature /change: Q -> R
Feature /domain: WH1
Ethnic origin Russia
//
ID @Y83X(1); standard; MUTATION; WH1
Accession W0186
Systematic name g.32196dupA, c.248dupA, r.248dupa, p.Tyr83X
Description A duplication mutation in the exon 2 leading to a premature
Description stop codon in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 32197
Feature /change: +a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 283
Feature /codon: tac -> taa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 83
Feature /change: Y -> X
Feature /domain: WH1
Ethnic origin France
//
ID I85S(1); standard; MUTATION; WH1
Accession W0038
Systematic name g.32202T>G, c.254T>G, r.254u>g, p.Ile85Ser
Original code P7-1
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15218418
RefAuthors Ariga, T., Nakajima, M., Yoshida, J., Yamato, K.,
RefAuthors Nagatoshi, Y., Yanai, F., Caviles, A. P., Nelson, D. L.,
RefAuthors Sakiyama, Y.
RefTitle Confirming or excluding the diagnosis of wiskott-aldrich
RefTitle syndrome in children with thrombocytopenia of an unknown
RefTitle etiology.
RefLoc J Pediatr Hematol Oncol:435-440 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32202
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 288
Feature /codon: atc -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 85
Feature /change: I -> S
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 40,000/µL
Symptoms Eczema
Treatment IVIG
Age 3
Sex XY
Family history De novo
Comment Patient's yoounger brother died of severe infectious
Comment episodes at the age of 9 months.
//
ID R86C(1); standard; MUTATION; WH1
Accession W0037
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Original code P6
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15218418
RefAuthors Ariga, T., Nakajima, M., Yoshida, J., Yamato, K.,
RefAuthors Nagatoshi, Y., Yanai, F., Caviles, A. P., Nelson, D. L.,
RefAuthors Sakiyama, Y.
RefTitle Confirming or excluding the diagnosis of wiskott-aldrich
RefTitle syndrome in children with thrombocytopenia of an unknown
RefTitle etiology.
RefLoc J Pediatr Hematol Oncol:435-440 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 17,000/µL
Symptoms Eczema
Treatment IVIG, steroid
Age 8 mo
Sex XY
Family history De novo
//
ID R86C(2); standard; MUTATION; WH1
Accession W0188
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin Italy
//
ID R86C(3); standard; MUTATION; WH1
Accession W0189
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin Sweden
//
ID R86C(4a); standard; MUTATION; WH1
Accession W0190
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0191
//
ID R86C(4b); standard; MUTATION; WH1
Accession W0191
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0190
//
ID R86C(5a); standard; MUTATION; WH1
Accession W0192
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0193
//
ID R86C(5b); standard; MUTATION; WH1
Accession W0193
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0192
//
ID R86C(6a); standard; MUTATION; WH1
Accession W0194
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0195
//
ID R86C(6b); standard; MUTATION; WH1
Accession W0195
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin US
Relative WASbase; W0194
//
ID R86C(7); standard; MUTATION; WH1
Accession W0196
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin US
//
ID R86C(8); standard; MUTATION; WH1
Accession W0197
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin US
//
ID R86C(9); standard; MUTATION; WH1
Accession W0198
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin US
//
ID R86C(10); standard; MUTATION; WH1
Accession W0199
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin US
//
ID R86C(11a); standard; MUTATION; WH1
Accession W0200
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin Germany
Relative WASbase; W0201
//
ID R86C(11b); standard; MUTATION; WH1
Accession W0201
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin Germany
Relative WASbase; W0200
//
ID R86C(12); standard; MUTATION; WH1
Accession W0202
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin Germany
//
ID R86C(13); standard; MUTATION; WH1
Accession W0203
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin Germany
//
ID R86C(14); standard; MUTATION; WH1
Accession W0204
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin Germany
//
ID R86C(15); standard; MUTATION; WH1
Accession W0205
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin Germany
//
ID R86C(16a); standard; MUTATION; WH1
Accession W0206
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin UK
Relative WASbase; W0207
//
ID R86C(16b); standard; MUTATION; WH1
Accession W0207
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin UK
Relative WASbase; W0206
//
ID R86C(17); standard; MUTATION; WH1
Accession W0208
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin UK
//
ID R86C(18a); standard; MUTATION; WH1
Accession W0209
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin Japan
Relative WASbase; W0210
//
ID R86C(18b); standard; MUTATION; WH1
Accession W0210
Systematic name g.32204C>T, c.256C>T, r.256c>u, p.Arg86Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> C
Feature /domain: WH1
Ethnic origin Japan
Relative WASbase; W0209
//
ID R86G(1); standard; MUTATION; WH1
Accession W0187
Systematic name g.32204C>G, c.256C>G, r.256c>g, p.Arg86Gly
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32204
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 290
Feature /codon: cgc -> ggc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> G
Feature /domain: WH1
Ethnic origin US
//
ID R86H(1); standard; MUTATION; WH1
Accession W0052
Systematic name g.32205G>A, c.257G>A, r.257g>a, p.Arg86His
Original code W9
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32205
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 291
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> H
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 3
Sex XY
//
ID R86H(2); standard; MUTATION; WH1
Accession W0053
Systematic name g.32205G>A, c.257G>A, r.257g>a, p.Arg86His
Original code W10
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32205
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 291
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> H
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 8
Sex XY
//
ID R86H(3a); standard; MUTATION; WH1
Accession W0108
Systematic name g.32205G>A, c.257G>A, r.257g>a, p.Arg86His
Original code P6
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32205
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 291
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> H
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 30,000/µl
Symptoms Eczema; Bloody stool; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 313 mg/dL
IgE 110.2 IU/L
IgG 992 mg/dL
IgM 36 mg/dL
Age 10
Sex XY
Ethnic origin China
Family history Inherited
Relative WASbase; W0109 brother
Comment Patient's mother is carrier of the mutation.
//
ID R86H(3b); standard; MUTATION; WH1
Accession W0109
Systematic name g.32205G>A, c.257G>A, r.257g>a, p.Arg86His
Original code P7
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32205
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 291
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> H
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 40,000/µl
Symptoms Eczema; Bloody stool; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
Age 9
Sex XY
Ethnic origin China
Family history Inherited
Relative WASbase; W0108 brother
Comment Patient's mother is carrier of the mutation.
//
ID R86H(4); standard; MUTATION; WH1
Accession W0211
Systematic name g.32205G>A, c.257G>A, r.257g>a, p.Arg86His
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32205
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 291
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> H
Feature /domain: WH1
Ethnic origin France
//
ID R86H(5); standard; MUTATION; WH1
Accession W0212
Systematic name g.32205G>A, c.257G>A, r.257g>a, p.Arg86His
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32205
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 291
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> H
Feature /domain: WH1
Ethnic origin Germany
//
ID R86H(6); standard; MUTATION; WH1
Accession W0213
Systematic name g.32205G>A, c.257G>A, r.257g>a, p.Arg86His
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32205
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 291
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> H
Feature /domain: WH1
Ethnic origin Israel
//
ID R86H(7); standard; MUTATION; WH1
Accession W0214
Systematic name g.32205G>A, c.257G>A, r.257g>a, p.Arg86His
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32205
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 291
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> H
Feature /domain: WH1
Ethnic origin Russia
//
ID R86H(8); standard; MUTATION; WH1
Accession W0215
Systematic name g.32205G>A, c.257G>A, r.257g>a, p.Arg86His
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32205
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 291
Feature /codon: cgc -> cac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> H
Feature /domain: WH1
Ethnic origin US
//
ID R86L(1); standard; MUTATION; WH1
Accession W0216
Systematic name g.32205G>T, c.257G>T, r.257g>u, p.Arg86Leu
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32205
Feature /change: g -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 291
Feature /codon: cgc -> ctc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 86
Feature /change: R -> L
Feature /domain: WH1
Ethnic origin US
//
ID Y88C(1); standard; MUTATION; WH1
Accession W0217
Systematic name g.32211A>G, c.263A>G, r.263a>g, p.Tyr88Cys
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32211
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 297
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 88
Feature /change: Y -> C
Feature /domain: WH1
Ethnic origin The Netherlands
//
ID G89D(1); standard; MUTATION; WH1
Accession W0218
Systematic name g.32214G>A, c.266G>A, r.266g>a, p.Gly89Asp
Description A point mutation in the exon 2 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32214
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 300
Feature /codon: ggc -> gac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 89
Feature /change: G -> D
Feature /domain: WH1
Ethnic origin UK
//
ID Q99X(1); standard; MUTATION; WH1
Accession W0057
Systematic name g.33366C>T, c.295C>T, r.295c>u, p.Gln99X
Original code W17
Description A point mutation in the exon 3 leading to a premature stop
Description codon in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33366
Feature /change: c -> t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 329
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 99
Feature /change: Q -> X
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 0.75
Sex XY
//
ID L101P(1a); standard; MUTATION; WH1
Accession W0039
Systematic name g.33373T>C, c.302T>C, r.302u>c, p.Leu101Pro
Original code P1
Description A point mutation in the exon 3 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15469902
RefAuthors Kim, M. K., Kim, E. S., Kim, D. S., Choi, I. H., Moon, T.,
RefAuthors Yoon, C. N., Shin, J. S.
RefTitle Two novel mutations of wiskott-aldrich syndrome: the
RefTitle molecular prediction of interaction between the mutated
RefTitle WASP L101P with WASP-interacting protein by molecular
RefTitle modeling.
RefLoc Biochim Biophys Acta:134-140 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33373
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 336
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 101
Feature /change: L -> P
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Deceased Cause of death: intracerebral haemorrhage
Symptoms Platelets
Symptoms At date of diagnosis: Count: 30,000/µL
Symptoms Infections
Symptoms Bacterial: meningitis; pneumonia; meningoencephalitis
Symptoms Autoimmune disease:
Symptoms ITP
Age 7
Sex XY
Relative WASbase; W0040 nephew
Comment PatientAn's brother suffered from ITP and died at early
Comment age.
//
ID L101P(1b); standard; MUTATION; WH1
Accession W0040
Systematic name g.33373T>C, c.302T>C, r.302u>c, p.Leu101Pro
Original code P2
Description A point mutation in the exon 3 leading to an amino acid
Description change in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15469902
RefAuthors Kim, M. K., Kim, E. S., Kim, D. S., Choi, I. H., Moon, T.,
RefAuthors Yoon, C. N., Shin, J. S.
RefTitle Two novel mutations of wiskott-aldrich syndrome: the
RefTitle molecular prediction of interaction between the mutated
RefTitle WASP L101P with WASP-interacting protein by molecular
RefTitle modeling.
RefLoc Biochim Biophys Acta:134-140 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33373
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 336
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 101
Feature /change: L -> P
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 30,000/µL
Age 4
Sex XY
Relative WASbase; W0039 uncle
Comment Patient's brother suffered from ITP and died at 8 years.
//
ID L105P(1); standard; MUTATION; WH1
Accession W0021
Systematic name g.33385T>C, c.348T>C, p.L105P
Original code BSW188
Description Point mutation in the exon 3 leading to an amino acid
Description change in the WH1 domain
Date 27-Nov-2002 (Rel. 7, Created)
Date 27-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (27-Nov-2002) to WASPbase.
RefLoc L. D. Notarangelo, Dept. Pediatrics- Spedali Civili-
RefLoc Brescia- Italy, Tel 339303995715, Fax 339303388099, e-mail
RefLoc notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33385
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 348
Feature /codon: ctt -> cct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 105
Feature /change: L -> P
Feature /domain: WH1
mRNA level N.D.
Protein level Reduced
Protein struct L105P
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 29/12/99
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 7; Size: 6.2
Symptoms Most recent: Date: 30/09/02; Count: 206; Size: 8.2
Symptoms Anti-platelet antibodies demonstrated:no
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: mild/moderate
Symptoms Infections: none
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 11/08/99
IgA 43 mg/dL, compare with normal for age: normal
IgE 8.34 kU/L, compare with normal for age: normal
IgG 590 mg/dL, compare with normal for age: normal
IgM 23 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: 0 Rh POS
Response Isoagglutinins: anti-A: NO; anti-B: NO
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 19/05/99
Lymphocytes total lymphocytes: 4384/mm3
Lymphocytes total CD4: 2210/mm3
Lymphocytes total CD8: 380/mm3
Lymphocytes total B: 1585/mm3
Lymphocytes most recent: 30/09/02
Lymphocytes total lymphocytes: 1340/mm3
Lymphocytes total CD4: 174/mm3
Lymphocytes total CD8: 857/mm3
Lymphocytes total B: 40/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 30/09/02: low
Lymphocytes anti-CD3, date: 30/09/02: normal
Lymphocytes antigens, date: : not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: constant
Treatment date started: 01/11/99
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: no effect
Treatment responding to autoimmunity: no effect
Treatment responding to thrombocytopenia: marginal
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment Bone marrow transplatation: Yes: Date: 24/01/02
Treatment Donor: MUD
Treatment Source: full marrow
Treatment Outcome: alive and well
Treatment T-cell chimerism: donor
//
ID Y107C(1); standard; MUTATION; WH1
Accession W0219
Systematic name g.33391A>G, c.320A>G, r.320a>g, p.Tyr107Cys
Description A point mutation in the exon 3 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33391
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 354
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 107
Feature /change: Y -> C
Feature /domain: WH1
Ethnic origin US
//
ID #P110X126(1); standard; MUTATION; WH1
Accession W0005
Systematic name g.33401delC, c.364delC, p.P110fsX126
Original code BSW045
Description Deletion in the exon 3 leading to a premature stop codon
Description in the WH1 domain
Date 11-Nov-2002 (Rel. 7, Created)
Date 11-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (11-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 33401
Feature /change: -c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 364
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 110
Feature /change: P -> PPPSSTPSLE MTAKRGX
Feature /domain: WH1
mRNA level Absent
Protein level Absent
Protein struct fs at D 211
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 18/07/96
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 50; Size: 5.2
Symptoms Most recent: Date: 20/06/2002; Count: 229; Size: 9.2
Symptoms After splenectomy: Count: 118
Symptoms Anti-platelet antibodies demonstrated:not done
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: mild/moderate
Symptoms Infections: severe
Symptoms Bacterial: pneumonia
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 16/07/96
IgA 154 mg/dL, compare with normal for age: high
IgE 20 kU/L, compare with normal for age: normal
IgG 765 mg/dL, compare with normal for age: normal
IgM 39 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: A Rh+
Response Isoagglutinins: anti-A: NO; anti-B: NO
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 18/07/96
Lymphocytes total lymphocytes: 3168/mm3
Lymphocytes total CD4: 1164/mm3
Lymphocytes total CD8: 126/mm3
Lymphocytes total B: 254/mm3
Lymphocytes most recent: 4/10/01
Lymphocytes total lymphocytes: 4080/mm3
Lymphocytes total CD4: 1305/mm3
Lymphocytes total CD8: 980/mm3
Lymphocytes total B: 694/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 19/03/01: normal
Lymphocytes anti-CD3, date: 19/03/01: normal
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: yes; Date: 10/10/96
Treatment IVIG: constant
Treatment date started: 10/07/96
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL, ANTIFUNGAL: constant
Treatment Bone marrow transplatation: Yes: Date: 1/9/99
Treatment Donor: MUD
Treatment Source: full marrow
Treatment Outcome: alive and well
Treatment BMT-related problems: BLPD
Treatment T-cell chimerism: donor
//
ID @T111X121(1); standard; MUTATION; WH1
Accession W0220
Systematic name g.33401dupC, c.330dupC, r.330dupc, p.Thr111fsX11
Description A frame shift duplication mutation in the exon 3 leading to
Description a premature stop codon in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 33402
Feature /change: +c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 365
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 111
Feature /change: T -> HPLLPHLRWR X
Feature /domain: WH1
Ethnic origin US
//
ID G119R(1); standard; MUTATION; WH1
Accession W0221
Systematic name g.33426G>A, c.355G>A, r.355g>a, p.Gly119Arg
Description A point mutation in the exon 3 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33426
Feature /change: g -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 389
Feature /codon: gga -> aga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 119
Feature /change: G -> R
Feature /domain: WH1
Ethnic origin The Netherlands
//
ID @G119+2(1); standard; MUTATION; WH1
Accession W0222
Systematic name g.33425_33426insGGAGAT, c.354_355insGGAGAT,
Systematic name r.354_355insggagau, p.Ala118_Gly119insGlyAsp
Description An inframe insertion in the exon 3 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AF196970: 33426
Feature /change: +ggagat
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe insertion
Feature /loc: EMBL: U12707; GI:695150; : 389
Feature aa; 3
Feature /rnalink: 2
Feature /name: insertion; inframe
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 119
Feature /change: +GD
Feature /domain: WH1
Ethnic origin Japan
//
ID #D132X260(1); standard; MUTATION; WH1
Accession W0065
Systematic name g.33567delC, c.396delC, r.396delc, p.Asp132fsX129
Original code W24
Description A frame shift deletion mutation in the exon 4 leading to a
Description premature stop codon in the WH1 domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 33567
Feature /change: -c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 430
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 132
Feature /change: D ->
Feature /change: ERPRPSGPSC RRRYKKGIRG KVETDASYPH HQHQPMKREE
Feature /change: EGSHPCPCIQ VETKEALQWV RSPWGWRQWT SRTLTSRVHD
Feature /change: TVGSQHLDLA QLIRNAQGRR RSAKLILVHP VDSSMSATWG
Feature /change: GTPRMDLTX
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Age 0.55
Sex XY
//
ID E133D(1); standard; MUTATION; WH1
Accession W0223
Systematic name g.33570G>T, c.399G>T, r.399g>u, p.Glu133Asp
Description A point mutation in the exon 4 leading to an amino acid
Description change in the WH1 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33570
Feature /change: g -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 433
Feature /codon: gag -> gat; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 133
Feature /change: E -> D
Feature /domain: WH1
Ethnic origin US
//
ID #Q146X260(1); standard; MUTATION;
Accession W0110
Systematic name g.33607delC, c.436delC, r.436delc, p.Gln146fsX115
Original code P8
Description A frame shift deletion mutation in the exon 4 leading to a
Description premature stop codon
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 33607
Feature /change: -c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 470
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 146
Feature /change: Q ->
Feature /change: KKGIRGKVET DASYPHHQHQ PMKREEEGSH PCPCIQVETK
Feature /change: EALQWVRSPW GWRQWTSRTL TSRVHDTVGS QHLDLAQLIR
Feature /change: NAQGRRRSAK LILVHPVDSS MSATWGGTPR MDLTX
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 11,000/µl
Symptoms Eczema; Bloody stool; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 63 mg/dL
IgE 259.7 IU/L
IgG 965 mg/dL
IgM 51 mg/dL
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes CD4: 46%
Lymphocytes CD8: 28%
Age 1.3
Sex XY
Ethnic origin China
Family history De novo
Comment Patient's mother is carrier of the mutation.
//
ID @R148X168(1); standard; MUTATION;
Accession W0042
Systematic name g.33613dupA, c.442dupA, r.442dupa, p.Arg148fsX21
Original code P1
Description A frame shift duplication mutation in the exon 4 leading to
Description a premature stop codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15985539
RefAuthors Lutskiy, M. I., Beardsley, D. S., Rosen, F. S., Remold-
RefAuthors O'Donnell, E.
RefTitle Mosaicism of NK cells in a patient with wiskott-aldrich
RefTitle syndrome.
RefLoc Blood:2815-2817 (2005)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 33614
Feature /change: +a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 477
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 148
Feature /change: R -> KESEAKWRQT PATPTTNTSQ X
Diagnosis X-linked thrombocytopenia
Symptoms Platelets
Symptoms At date of diagnosis: Count: 20,000-50,000/µL
Symptoms Eczema: mild
Sex XY
//
ID @R148X168(2); standard; MUTATION;
Accession W0066
Systematic name g.33613dupA, c.442dupA, r.442dupa, p.Arg148fsX21
Original code W25
Description A frame shift duplication mutation in the exon 4 leading to
Description a premature stop codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 33614
Feature /change: +a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 477
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 148
Feature /change: R -> KESEAKWRQT PATPTTNTSQ X
Diagnosis Wiskott Aldrich syndrome
Age 5
Sex XY
//
ID @R148X168(3); standard; MUTATION;
Accession W0067
Systematic name g.33613dupA, c.442dupA, r.442dupa, p.Arg148fsX21
Original code W26
Description A frame shift duplication mutation in the exon 4 leading to
Description a premature stop codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 33614
Feature /change: +a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 477
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 148
Feature /change: R -> KESEAKWRQT PATPTTNTSQ X
Diagnosis Wiskott Aldrich syndrome
Age 0.75
Sex XY
//
ID E169X(1); standard; MUTATION;
Accession W0224
Systematic name g.33785G>T, c.505G>T, r.505g>u, p.Glu169X
Description A point mutation in the exon 5 leading to a premature stop
Description codon
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33785
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 539
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 169
Feature /change: E -> X
Ethnic origin Japan
//
ID #L177X260(1); standard; MUTATION;
Accession W0068
Systematic name g.33904delG, c.531delG, r.531delg, p.Leu179fsX82
Original code W27
Description A frame shift deletion mutation in the exon 6 leading to a
Description premature stop codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 33904
Feature /change: -g
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 565
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 177
Feature /change: L ->
Feature /change: LPCIQVETKE ALQWVRSPWG WRQWTSRTLT SRVHDTVGSQ
Feature /change: HLDLAQLIRN AQGRRRSAKL ILVHPVDSSM SATWGGTPRM DLTX
Diagnosis Wiskott Aldrich syndrome
Age 4
Sex XY
//
ID H180N(1); standard; MUTATION;
Accession W0225
Systematic name g.33911C>A, c.538C>A, r.538c>a, p.His180Asn
Description A point mutation in the exon 6 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33911
Feature /change: c -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 572
Feature /codon: cat -> aat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 180
Feature /change: H -> N
Ethnic origin Italy
//
ID R211X(1); standard; MUTATION;
Accession W0012
Systematic name g.34650C>T, c.665C>T, p.R211X
Original code BSW152
Description Point mutation in the exon 7 leading to a premature stop
Description codon
Date 14-Nov-2002 (Rel. 7, Created)
Date 14-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (14-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34650
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 665
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 211
Feature /change: R -> X
mRNA level N.D.
Protein level N.D.
Protein struct R 211 X
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 17/01/99
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 1; Size: 5.1
Symptoms Most recent: Date: 28/01/02; Count: 461; Size: 6.7
Symptoms Anti-platelet antibodies demonstrated:no
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: mild/moderate
Symptoms Infections: severe
Symptoms Fungal: candida
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 14/01/99
IgA 135 mg/dL, compare with normal for age: low
IgE 60.6 kU/L, compare with normal for age: normal
IgG 1165 mg/dL, compare with normal for age: normal
IgM 100 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T, date: 02/10/00: normal
Response PPS: not done
Response HiB, date: 24/01/00: normal
Response Other: not done
Response Other: not done
Response Blood group: A Rh+
Response Isoagglutinins: anti-A: NO; anti-B: NO
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 14/01/99
Lymphocytes total lymphocytes: 2761/mm3
Lymphocytes total CD4: 1435/mm3
Lymphocytes total CD8: 193/mm3
Lymphocytes total B: 607/mm3
Lymphocytes most recent:
Lymphocytes total lymphocytes: 3116/mm3
Lymphocytes total CD4: 1495/mm3
Lymphocytes total CD8: 561/mm3
Lymphocytes total B: 748/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 28/01/02: normal
Lymphocytes anti-CD3, date: 28/01/02: normal
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: never
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: never
Treatment Bone marrow transplatation: Yes: Date: 29/01/99
Treatment Donor: matched sibling
Treatment Source: CD34+ cells: cord blood
Treatment Outcome: alive and well
Treatment T-cell chimerism: donor
//
ID R211X(2); standard; MUTATION;
Accession W0018
Systematic name g.34650C>T, c.665C>T, p.R211X
Original code BSW010
Description Point mutation in the exon 7 leading to a premature stop
Description codon
Date 21-Nov-2002 (Rel. 7, Created)
Date 21-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (21-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34650
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 665
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 211
Feature /change: R -> X
mRNA level Absent
Protein level N.D.
Protein struct R 211 X
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 17/09/98
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 10; Size: 8.6
Symptoms Most recent: Date: 21/09/98; Count: 118; Size: 8.6
Symptoms Anti-platelet antibodies demonstrated:no
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: mild/moderate
Symptoms Infections: severe
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
IgA 9 mg/dL, compare with normal for age: low
IgG 1065 mg/dL, compare with normal for age: normal
IgM 13.5 mg/dL, compare with normal for age: low
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: A Rh +
Response Isoagglutinins: anti-A: NO; anti-B: YES
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 17/09/98
Lymphocytes total lymphocytes: 4511/mm3
Lymphocytes total CD4: 541/mm3
Lymphocytes total CD8: 2255/mm3
Lymphocytes most recent: 21/09/98
Lymphocytes total lymphocytes: 4510/mm3
Lymphocytes total CD4: 541/mm3
Lymphocytes total CD8: 255/mm3
Lymphocytes total B: 361/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: not done
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: constant
Treatment Still on IVIG, dose: 400mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to autoimmunity: no effect
Treatment responding to thrombocytopenia: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL, ANTIFUNGAL: constant
Treatment No bone marrow transplatation
//
ID R211X(3); standard; MUTATION;
Accession W0020
Systematic name g.34650C>T, c.665C>T, p.R211X
Original code BSW600
Description Point mutation in the exon 7 leading to a premature stop
Description codon
Date 25-Nov-2002 (Rel. 7, Created)
Date 25-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (25-Nov-2002) to WASPbase.
RefLoc L. D. Notarangelo, Dept. Pediatrics- Spedali Civili-
RefLoc Brescia- Italy, Tel 339303995715, Fax 339303388099, e-mail
RefLoc notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34650
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 665
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 211
Feature /change: R -> X
mRNA level N.D.
Protein level N.D.
Protein struct R211X
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 19/02/01
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 55; Size: 6.8
Symptoms Most recent: Date: 07/10/02; Count: 17; Size: 5
Symptoms Anti-platelet antibodies demonstrated:not done
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: mild/moderate
Symptoms Infections: none
Symptoms Autoimmune disease: yes
Symptoms hemolytic anemia; vasculitis
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 11/02/01
IgA 9 mg/dL, compare with normal for age: low
IgE >5000 kU/L, compare with normal for age: high
IgG 184 mg/dL, compare with normal for age: low
IgM 4 mg/dL, compare with normal for age: low
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: A Rh POS
Response Isoagglutinins: anti-A: NO; anti-B: NO
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 12/02/01
Lymphocytes total lymphocytes: 3643/mm3
Lymphocytes total CD4: 1278/mm3
Lymphocytes total CD8: 499/mm3
Lymphocytes total B: 3675/mm3
Lymphocytes most recent: 07/10/02
Lymphocytes total lymphocytes: 1450/mm3
Lymphocytes total CD4: 841/mm3
Lymphocytes total CD8: 174/mm3
Lymphocytes total B: 160/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: normal
Lymphocytes anti-CD3, date: 07/10/02: normal
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: intermittent
Treatment Still on IVIG, dose: 400mg/Kg/ 4 weeks
Treatment responding to infection: no effect
Treatment responding to autoimmunity: good
Treatment responding to thrombocytopenia: marginal
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL, ANTIFUNGAL: constant
Treatment Bone marrow transplatation: Yes: Date: 18/10/01
Treatment Donor: MUD
Treatment Source: full marrow
Treatment Outcome: alive and well
Treatment T-cell chimerism: mixed
//
ID R211X(4); standard; MUTATION;
Accession W0058
Systematic name g.34650C>T, c.631C>T, r.631c>u, p.Arg211X
Original code W18
Description A point mutation in the exon 7 leading to a premature stop
Description codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34650
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 665
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 211
Feature /change: R -> X
Diagnosis Wiskott Aldrich syndrome
Age 0.75
Sex XY
//
ID R211X(5a); standard; MUTATION;
Accession W0059
Systematic name g.34650C>T, c.631C>T, r.631c>u, p.Arg211X
Original code W19.1
Description A point mutation in the exon 7 leading to a premature stop
Description codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34650
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 665
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 211
Feature /change: R -> X
Diagnosis Wiskott Aldrich syndrome
Sex XY
Relative WASbase; W0060 unknown
//
ID R211X(5b); standard; MUTATION;
Accession W0060
Systematic name g.34650C>T, c.631C>T, r.631c>u, p.Arg211X
Original code W19.2
Description A point mutation in the exon 7 leading to a premature stop
Description codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34650
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 665
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 211
Feature /change: R -> X
Diagnosis Wiskott Aldrich syndrome
Sex XY
Relative WASbase; W0059 unknown
//
ID R211X(6); standard; MUTATION;
Accession W0112
Systematic name g.34650C>T, c.631C>T, r.631c>u, p.Arg211X
Original code P10
Description A point mutation in the exon 7 leading to a premature stop
Description codon
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34650
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 665
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 211
Feature /change: R -> X
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 10,000/µl
Symptoms Eczema; Diarhoea; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
Lymphocytes At diagnosis:
Lymphocytes CD4: 16%
Lymphocytes CD8: 73%
Age 1.2
Sex XY
Ethnic origin China
Family history De novo
Comment Patient's mother is carrier of the mutation.
//
ID R211X(7); standard; MUTATION;
Accession W0113
Systematic name g.34650C>T, c.631C>T, r.631c>u, p.Arg211X
Original code P11
Description A point mutation in the exon 7 leading to a premature stop
Description codon
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34650
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 665
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 211
Feature /change: R -> X
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 6,000/µl
Symptoms Eczema; Blood stool; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 368 mg/dL
IgE 400.5 IU/L
IgG 1,035 mg/dL
IgM 66 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 37%
Lymphocytes CD8: 44%
Age 2
Sex XY
Ethnic origin China
Family history Inherited
Comment Patient's mother is carrier of the mutation.
//
ID A236G(1); standard; MUTATION;
Accession W0019
Systematic name g.34726C>G, c.741C>G, p.A236G
Description Point mutation in the exon 7 leading to an amino acid
Description change
Date 21-Nov-2002 (Rel. 7, Created)
Date 21-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (21-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34726
Feature /change: c -> g
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 741
Feature /codon: gct -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 236
Feature /change: A -> G
mRNA level N.D.
Protein level Reduced
Protein struct A 236 G
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 04/10/91
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 4; Size: 4.1
Symptoms Most recent: Date: 08/07/02; Count: 102; Size: 6.2
Symptoms After splenectomy: Count: 231
Symptoms Anti-platelet antibodies demonstrated:not done
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: never
Symptoms Infections: none
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 04/10/91
IgA 388 mg/dL, compare with normal for age: high
IgE 25 kU/L, compare with normal for age: normal
IgG 338 mg/dL, compare with normal for age: low
IgM 53 mg/dL, compare with normal for age: low
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: A Rh +
Response Isoagglutinins: anti-A: NO; anti-B: YES
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 04/10/91
Lymphocytes total lymphocytes: 2600/mm3
Lymphocytes total CD4: 598/mm3
Lymphocytes total CD8: 1378/mm3
Lymphocytes most recent: 08/07/02
Lymphocytes total lymphocytes: 1768/mm3
Lymphocytes total CD4: 530/mm3
Lymphocytes total CD8: 406/mm3
Lymphocytes total B: 160/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 08/07/02: low
Lymphocytes anti-CD3, date: 08/07/02: low
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: yes; Date: 12/10/98
Treatment IVIG: intermittent
Treatment date started: 03/10/98
Treatment Still on IVIG, dose: 300mg/Kg/ 4 weeks
Treatment responding to infection: marginal
Treatment responding to autoimmunity: no effect
Treatment responding to thrombocytopenia: good
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL : constant
Treatment No bone marrow transplatation
//
ID #I238X260(1); standard; MUTATION; CRIB
Accession W0111
Systematic name g.34732delT, c.713delT, r.713delu, p.Ile238fsX23
Original code P9
Description A frame shift deletion mutation in the exon 7 leading to a
Description premature stop codon in the CRIB domain
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 34732
Feature /change: -t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 747
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 238
Feature /change: I -> MVHPVDSSMS ATWGGTPRMD LTX
Feature /domain: CRIB
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 1,000/µl
Symptoms Eczema; Petechiae; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 132 mg/dL
IgE 706.1 IU/L
IgG 2,353 mg/dL
IgM 141 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 13%
Lymphocytes CD8: 46%
Age 8 mo
Sex XY
Ethnic origin China
Family history Inherited
Comment Patient's mother is carrier of the mutation.
//
ID S242C(1); standard; MUTATION; CRIB
Accession W0226
Systematic name g.34743A>T, c.724A>T, r.724a>u, p.Ser242Cys
Description A point mutation in the exon 7 leading to an amino acid
Description change in the CRIB domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34743
Feature /change: a -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 758
Feature /codon: agt -> tgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 242
Feature /change: S -> C
Feature /domain: CRIB
Ethnic origin The Netherlands
//
ID #Q255X260(1); standard; MUTATION;
Accession W0114
Systematic name g.35880delC, c.763delC, r.763delc, p.Gln255fsX6
Original code P12
Description A frame shift deletion mutation in the exon 8 leading to a
Description premature stop codon
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 35880
Feature /change: -c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 797
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 255
Feature /change: Q -> RMDLTX
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 400/µl
Symptoms Eczema; Petechiae; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 114.9 mg/dL
IgE 111.4 IU/L
IgG 733 mg/dL
IgM 103 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 32%
Lymphocytes CD8: 15%
Age 4 mo
Sex XY
Ethnic origin China
Family history Inherited
Comment Patient's mother is carrier of the mutation.
//
ID S272P(1); standard; MUTATION;
Accession W0084
Systematic name g.36134T>C, c.814T>C, r.814u>c, p.Ser272Pro
Original code P2
Description A point mutation in the exon 9 leading to an amino acid
Description change
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16804117
RefAuthors Ancliff, P. J., Blundell, M. P., Cory, G. O., Calle, Y.,
RefAuthors Worth, A., Kempski, H., Burns, S., Jones, G. E., Sinclair,
RefAuthors J., Kinnon, C., Hann, I. M., Gale, R. E., Linch, D. C.,
RefAuthors Thrasher, A. J.
RefTitle Two novel activating mutations in the wiskott-aldrich
RefTitle syndrome protein result in congenital neutropenia.
RefLoc Blood:2182-2189 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 36134
Feature /change: t -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 848
Feature /codon: tcc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 272
Feature /change: S -> P
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 172,000-353,000/µL
Sex XY
Ethnic origin Zair
Family history Inherited
Comment Patient's mother, maternal aunt and maternal grandmother
Comment were carriers of the mutation.
//
ID E285X(1); standard; MUTATION;
Accession W0023
Systematic name g.36173G>T, c.887G>T, p.E285X
Original code BSW259
Description Point mutation in the exon 9 leading to a premature stop
Description codon
Date 05-Dec-2002 (Rel. 7, Created)
Date 05-Dec-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (05-Dec-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 36173
Feature /change: g -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 887
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 285
Feature /change: E -> X
mRNA level N.D.
Protein level N.D.
Protein struct E 285 X
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 10/11/90
Diagnosis Wiskott Aldrich syndrome
Deceased Cause of death: BRAIN LYNPHOMA
Symptoms Platelets
Symptoms At date of diagnosis: Count: 50; Size: 3.7
Symptoms Most recent: Date: 09/12/91; Count: 532; Size: 6
Symptoms After splenectomy: Count: 382; Size: 6
Symptoms Anti-platelet antibodies demonstrated:not done
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: severe (generalized)
Symptoms Infections: mild
Symptoms Autoimmune disease: no
Symptoms Malignancy: yes
Symptoms Malignancy type: EBV BRAIN LINPHOMA; Date: N.D.
IgA 140 mg/dL, compare with normal for age: normal
IgE 1000 kU/L, compare with normal for age: high
IgG 500 mg/dL, compare with normal for age: normal
IgM 12 mg/dL, compare with normal for age: low
Response Antibody responses
Response D/T: not done
Response PPS, date: N.D.: normal
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: 0 Rh +
Response Isoagglutinins: anti-A: NO; anti-B: NO
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 10/11/90
Lymphocytes total lymphocytes: 2490/mm3
Lymphocytes total CD4: 747/mm3
Lymphocytes total CD8: 484/mm3
Lymphocytes most recent: 31/01/92
Lymphocytes total lymphocytes: 3752/mm3
Lymphocytes total CD4: 1238/mm3
Lymphocytes total CD8: 573/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 21/10/91: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens, date: 07/08/91: normal
Treatment Splenectomy: yes; Date: 04/10/91
Treatment IVIG: constant
Treatment date started: 01/02/91
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL, ANTIFUNGAL: intermittend
Treatment No bone marrow transplatation
//
ID @T286X288(1a); standard; MUTATION;
Accession W0227
Systematic name g.36175dupG, c.855dupG, r.855dupg, p.Thr286fsX3
Description A frame shift duplication mutation in the exon 9 leading to
Description a premature stop codon
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 36176
Feature /change: +g
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 890
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 286
Feature /change: T -> DLX
Ethnic origin UK
Relative WASbase; W0228
//
ID @T286X288(1a); standard; MUTATION;
Accession W0228
Systematic name g.36175dupG, c.855dupG, r.855dupg, p.Thr286fsX3
Description A frame shift duplication mutation in the exon 9 leading to
Description a premature stop codon
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 36176
Feature /change: +g
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 890
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 286
Feature /change: T -> DLX
Ethnic origin UK
Relative WASbase; W0227
//
ID #Y291X291(1); standard; MUTATION;
Accession W0009
Systematic name g.36193delC, c.907delC, p.Y291fsX291
Description Deletion in the exon 9 leading to a premature stop codon
Date 13-Nov-2002 (Rel. 7, Created)
Date 13-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (13-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 36193
Feature /change: -c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 907
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 291
Feature /change: Y -> X
mRNA level N.D.
Protein level N.D.
Protein struct fs stop aa 291
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 25/07/95
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 25; Size: 5.9
Symptoms Most recent: Date: 17/06/02; Count: 195; Size: 8.7
Symptoms Anti-platelet antibodies demonstrated:not done
Symptoms Evidence for accessory spleen:yes
Symptoms Eczema: mild
Symptoms Infections: none
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 25/07/95
IgA 103 mg/dL, compare with normal for age: normal
IgE 12 kU/L, compare with normal for age: normal
IgG 1770 mg/dL, compare with normal for age: high
IgM 26 mg/dL, compare with normal for age: low
Response Antibody responses
Response D/T, date: 28/04/98: normal
Response PPS, date: 28/04/98: normal
Response HiB, date: 28/04/98: normal
Response Other: not done
Response Other: not done
Response Blood group: O Rh+
Response Isoagglutinins: anti-A: YES; anti-B: YES
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 25/07/95
Lymphocytes total lymphocytes: 1638/mm3
Lymphocytes total CD4: 704/mm3
Lymphocytes total CD8: 163/mm3
Lymphocytes total B: 35/mm3
Lymphocytes most recent: 17/06/02
Lymphocytes total lymphocytes: 1326/mm3
Lymphocytes total CD4: 530/mm3
Lymphocytes total CD8: 305/mm3
Lymphocytes total B: 172/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 17/06/02: normal
Lymphocytes anti-CD3, date: 17/06/02
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: intermittent
Treatment date started: 30/09/94
Treatment No still on IVIG
Treatment Still on IVIG
Treatment responding to infection: no effect
Treatment responding to autoimmunity: no effect
Treatment responding to thrombocytopenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL, ANTIFUNGAL: constant
Treatment Bone marrow transplatation: Yes: Date: 10/04/96
Treatment Donor: matched sibling
Treatment Source: full marrow
Treatment Outcome: alive and well
Treatment T-cell chimerism: mixed
//
ID I294T(1); standard; MUTATION;
Accession W0083
Systematic name g.36201T>C, c.881T>C, r.881u>c, p.Ile294Thr
Original code P1
Description A point mutation in the exon 9 leading to an amino acid
Description change
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16804117
RefAuthors Ancliff, P. J., Blundell, M. P., Cory, G. O., Calle, Y.,
RefAuthors Worth, A., Kempski, H., Burns, S., Jones, G. E., Sinclair,
RefAuthors J., Kinnon, C., Hann, I. M., Gale, R. E., Linch, D. C.,
RefAuthors Thrasher, A. J.
RefTitle Two novel activating mutations in the wiskott-aldrich
RefTitle syndrome protein result in congenital neutropenia.
RefLoc Blood:2182-2189 (2006)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 36201
Feature /change: t -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 915
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 294
Feature /change: I -> T
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 153,000-258,000/µL
Age 4
Sex XY
Ethnic origin Zair
Family history Inherited
Comment Patient's mother is carrier of the mutation.
//
ID I294T(2); standard; MUTATION;
Accession W0091
Systematic name g.36201T>C, c.881T>C, r.881u>c, p.Ile294Thr
Original code II.20
Description A point mutation in the exon 9 leading to an amino acid
Description change
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19006568
RefAuthors Beel, K., Cotter, M. M., Blatny, J., Bond, J., Lucas, G.,
RefAuthors Green, F., Vanduppen, V., Leung, D. W., Rooney, S., Smith,
RefAuthors O. P., Rosen, M. K., Vandenberghe, P.
RefTitle A large kindred with X-linked neutropenia with an I294T
RefTitle mutation of the wiskott-aldrich syndrome gene.
RefLoc Br J Haematol:120-126 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 36201
Feature /change: t -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 915
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 294
Feature /change: I -> T
Diagnosis X-linked thrombocytopenia
Symptoms Platelets
Symptoms At date of diagnosis: Count: 131,000/µL
Age 23
Sex XY
//
ID Q305X(1); standard; MUTATION;
Accession W0061
Systematic name g.36233C>T, c.913C>T, r.913c>u, p.Gln305X
Original code W20
Description A point mutation in the exon 9 leading to a premature stop
Description codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 36233
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 947
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 305
Feature /change: Q -> X
Diagnosis Wiskott Aldrich syndrome
Age 50
Sex XY
//
ID M307V(1); standard; MUTATION;
Accession W0229
Systematic name g.36239A>G, c.919A>G, r.919a>g, p.Met307Val
Description A point mutation in the exon 9 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 36239
Feature /change: a -> g
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 953
Feature /codon: atg -> gtg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 307
Feature /change: M -> V
Ethnic origin Germany
//
ID R321X(1); standard; MUTATION;
Accession W0230
Systematic name g.36487C>T, c.961C>T, r.961c>u, p.Arg321X
Description A point mutation in the exon 10 leading to a premature stop
Description codon
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 36487
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 995
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 321
Feature /change: R -> X
Ethnic origin Japan
//
ID #R328X444(1); standard; MUTATION;
Accession W0069
Systematic name g.36510delG, c.984delG, r.984delg, p.Pro330fsX115
Original code W29
Description A frame shift deletion mutation in the exon 10 leading to a
Description premature stop codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 36510
Feature /change: -g
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1018
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 328
Feature /change: R ->
Feature /change: RPLLWGVTRV VLVHCPLYLW GLPHPHQHPG DPHPQAEGAL
Feature /change: HHHPLQLLDV LDHCPLHPLE LVGHPCHHHR HHRHRRPAPG
Feature /change: MDQPLPHSLL LWCLPGAWPL VGVGERFWIK SGREFSX
Diagnosis Wiskott Aldrich syndrome
Age 2
Sex XY
//
ID @I331X335(1); standard; MUTATION;
Accession W0231
Systematic name g.36517dupA, c.991dupA, r.991dupa, p.Ile331fsX5
Description A frame shift duplication mutation in the exon 10 leading
Description to a premature stop codon
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 36518
Feature /change: +a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1026
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 331
Feature /change: I -> NCGGX
Ethnic origin US
//
ID #V332X444(1); standard; MUTATION;
Accession W0015
Systematic name g.36520delG, c.1028delG, p.V332fsX444
Original code BSW209
Description Deletion in the exon 10 leading to a premature stop codon
Date 18-Nov-2002 (Rel. 7, Created)
Date 18-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (18-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 36520
Feature /change: -g
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1028
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 332
Feature /change: V
Feature /change: -> WGVTRVVLVH CPLYLWGLPH PHQHPGDPHP QAEGALHHHP
Feature /change: LQLLDVLDHC PLHPLELVGH PCHHHRHHRH RRPAPGMDQP
Feature /change: LPHSLLLWCL PGAWPLVGVG ERFWIKSGRE FSX
mRNA level Reduced
Protein level Normal
Protein struct fs stop aa 444
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 13/1/94
Diagnosis Wiskott Aldrich syndrome
Deceased Age at death: 2; Cause of death: BLPD
Symptoms Platelets
Symptoms At date of diagnosis: Count: 10; Size: 4
Symptoms Most recent: Date: 19/12/95; Count: 184; Size: 6
Symptoms After splenectomy: Count: 6
Symptoms Anti-platelet antibodies demonstrated:no
Symptoms Evidence for accessory spleen:yes
Symptoms Eczema: mild
Symptoms Infections: mild
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 13/01/94
IgA 51 mg/dL, compare with normal for age: normal
IgE 347 kU/L, compare with normal for age: high
IgG 505 mg/dL, compare with normal for age: normal
IgM 76 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T, date: 10/01/94: absent
Response PPS, date: 10/01/94: absent
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: O Rh+
Response Isoagglutinins: anti-A: YES; anti-B: NO
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 13/01/94
Lymphocytes total lymphocytes: 2881/mm3
Lymphocytes total CD4: 1354/mm3
Lymphocytes total CD8: 230/mm3
Lymphocytes most recent: 13/11/95
Lymphocytes total lymphocytes: 910/mm3
Lymphocytes total CD4: 0/mm3
Lymphocytes total CD8: 78/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 10/01/94: low
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: yes; Date: 18/06/95
Treatment IVIG: constant
Treatment date started: 10/01/94
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL, ANTIFUNGAL: constant
Treatment Bone marrow transplatation: Yes: Date: 15/10/95
Treatment Donor: mismatched family donor
Treatment Source: CD34+ cells: marrow
Treatment Outcome
Treatment BMT-related problems: BLPD
Treatment T-cell chimerism: donor
//
ID #G334X444(1); standard; MUTATION;
Accession W0070
Systematic name g.36527delG, c.1001delG, r.1001delg, p.Gly334fsX111
Original code W30
Description A frame shift deletion mutation in the exon 10 leading to a
Description premature stop codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 36527
Feature /change: -g
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1035
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 334
Feature /change: G ->
Feature /change: VTRVVLVHCP LYLWGLPHPH QHPGDPHPQA EGALHHHPLQ
Feature /change: LLDVLDHCPL HPLELVGHPC HHHRHHRHRR PAPGMDQPLP
Feature /change: HSLLLWCLPG AWPLVGVGER FWIKSGREFS X
Diagnosis Wiskott Aldrich syndrome
Age 0.5
Sex XY
//
ID @P341X494(1); standard; MUTATION;
Accession W0034
Systematic name g.36548dupC, c.1022dupC, r.1022dupc, p.Leu342fsX153
Original code Case3
Description A frame shift duplication mutation in the exon 10 leading
Description to a premature stop codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15497008
RefAuthors Chien, Y. H., Hwu, W. L., Ariga, T., Chang, K. W., Yang,
RefAuthors Y. H., Lin, K. H., Chiang, B. L.
RefTitle Molecular diagnosis of wiskott-aldrich syndrome in taiwan.
RefLoc J Microbiol Immunol Infect:276-281 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 36549
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1057
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 341
Feature /change: P ->
Feature /change: PTAPCTFGDC PTPTNTPGTP TPRPRGPSTT TPSSYWTFWT
Feature /change: TAPSTPWSWW ATHATTTATT ATAAQLREWT SPSPTPSCSG
Feature /change: ACRGPGPWWG SGSAFGSNPA GNSAEQDPWG PRELSAAATT
Feature /change: SELRGTGGGP DARDAEEKQS HPLLRRRGGP GWRX
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 14,000/µL
IgA 105 mg/dL
IgG 504 mg/dL
IgM 178 mg/dL
Age 9 mo
Ethnic origin Taiwan
Family history Inherited
//
ID @P341X494(2); standard; MUTATION;
Accession W0071
Systematic name g.36546dupT, c.1020dupT, r.1020dupu, p.Pro341fsX154
Original code W31
Description A frame shift duplication mutation in the exon 10 leading
Description to a premature stop codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 36547
Feature /change: +t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1055
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 341
Feature /change: P ->
Feature /change: STAPCTFGDC PTPTNTPGTP TPRPRGPSTT TPSSYWTFWT
Feature /change: TAPSTPWSWW ATHATTTATT ATAAQLREWT SPSPTPSCSG
Feature /change: ACRGPGPWWG SGSAFGSNPA GNSAEQDPWG PRELSAAATT
Feature /change: SELRGTGGGP DARDAEEKQS HPLLRRRGGP GWRX
Diagnosis Wiskott Aldrich syndrome
Age 1.5
Sex XY
//
ID @P341X494(3a); standard; MUTATION;
Accession W0098
Systematic name g.36548dupC, c.1022dupC, r.1022dupc, p.Leu342fsX153
Original code P12-1
Description A frame shift duplication mutation in the exon 10 leading
Description to a premature stop codon
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20232122
RefAuthors Lee, W. I., Huang, J. L., Jaing, T. H., Wu, K. H., Chien,
RefAuthors Y. H., Chang, K. W.
RefTitle Clinical aspects and genetic analysis of taiwanese
RefTitle patients with wiskott-aldrich syndrome protein mutation:
RefTitle the first identification of x-linked thrombocytopenia in
RefTitle the chinese with novel mutations.
RefLoc J Clin Immunol:593-601 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 36549
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1057
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 341
Feature /change: P ->
Feature /change: PTAPCTFGDC PTPTNTPGTP TPRPRGPSTT TPSSYWTFWT
Feature /change: TAPSTPWSWW ATHATTTATT ATAAQLREWT SPSPTPSCSG
Feature /change: ACRGPGPWWG SGSAFGSNPA GNSAEQDPWG PRELSAAATT
Feature /change: SELRGTGGGP DARDAEEKQS HPLLRRRGGP GWRX
Diagnosis Date: 2008
Diagnosis X-linked thrombocytopenia
Symptoms Infections:
Symptoms Hepatosplenomegaly
Symptoms Autoimmune disease:
Symptoms Hemolytic anemia; IgA nephropathy
IgA 687 IU/L
IgE 1,542 IU/L, compare with normal for age: high
IgG 1,070 mg/dL
IgM 37 mg/dL, compare with normal for age: low
Lymphocytes At diagnosis:
Lymphocytes CD4: 32%
Lymphocytes CD8: 25%
Age 7.5
Sex XY
Ethnic origin Taiwan
Family history Inherited
Relative WASbase; W0099 sibling
Relative WASbase; W0093 cousin
Relative WASbase; W0094 cousin
Relative WASbase; W0096 cousin
Relative WASbase; W0097 cousin
//
ID @P341X494(3b); standard; MUTATION;
Accession W0099
Systematic name g.36548dupC, c.1022dupC, r.1022dupc, p.Leu342fsX153
Original code P12-2
Description A frame shift duplication mutation in the exon 10 leading
Description to a premature stop codon
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20232122
RefAuthors Lee, W. I., Huang, J. L., Jaing, T. H., Wu, K. H., Chien,
RefAuthors Y. H., Chang, K. W.
RefTitle Clinical aspects and genetic analysis of taiwanese
RefTitle patients with wiskott-aldrich syndrome protein mutation:
RefTitle the first identification of x-linked thrombocytopenia in
RefTitle the chinese with novel mutations.
RefLoc J Clin Immunol:593-601 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 36549
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1057
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 341
Feature /change: P ->
Feature /change: PTAPCTFGDC PTPTNTPGTP TPRPRGPSTT TPSSYWTFWT
Feature /change: TAPSTPWSWW ATHATTTATT ATAAQLREWT SPSPTPSCSG
Feature /change: ACRGPGPWWG SGSAFGSNPA GNSAEQDPWG PRELSAAATT
Feature /change: SELRGTGGGP DARDAEEKQS HPLLRRRGGP GWRX
Diagnosis Date: 2004
Diagnosis X-linked thrombocytopenia
Symptoms Gastro intestinal bleeding
IgA 228 IU/L
IgE 532 IU/L, compare with normal for age: high
IgG 1,276 mg/dL
IgM 29 mg/dL, compare with normal for age: low
Lymphocytes At diagnosis:
Lymphocytes CD4: 33%
Lymphocytes CD8: 28%
Age 23
Sex XY
Ethnic origin Taiwan
Family history Inherited
Relative WASbase; W0098 sibling
Relative WASbase; W0093 cousin
Relative WASbase; W0094 cousin
Relative WASbase; W0096 cousin
Relative WASbase; W0097 cousin
//
ID @P341X494(4); standard; MUTATION;
Accession W0102
Systematic name g.36548dupC, c.1022dupC, r.1022dupc, p.Leu342fsX153
Original code P11
Description A frame shift duplication mutation in the exon 10 leading
Description to a premature stop codon
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20232122
RefAuthors Lee, W. I., Huang, J. L., Jaing, T. H., Wu, K. H., Chien,
RefAuthors Y. H., Chang, K. W.
RefTitle Clinical aspects and genetic analysis of taiwanese
RefTitle patients with wiskott-aldrich syndrome protein mutation:
RefTitle the first identification of x-linked thrombocytopenia in
RefTitle the chinese with novel mutations.
RefLoc J Clin Immunol:593-601 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 36549
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1057
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 341
Feature /change: P ->
Feature /change: PTAPCTFGDC PTPTNTPGTP TPRPRGPSTT TPSSYWTFWT
Feature /change: TAPSTPWSWW ATHATTTATT ATAAQLREWT SPSPTPSCSG
Feature /change: ACRGPGPWWG SGSAFGSNPA GNSAEQDPWG PRELSAAATT
Feature /change: SELRGTGGGP DARDAEEKQS HPLLRRRGGP GWRX
Diagnosis Date: 1999
Diagnosis Wiskott Aldrich syndrome
Symptoms Infections:
Symptoms Recurrent sinopulmonary infections
IgA 1,510 IU/L, compare with normal for age: high
IgE 2,457 IU/L, compare with normal for age: high
IgG 2,510 mg/dL, compare with normal for age: high
IgM 572 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 57%
Lymphocytes CD8: 23%
Treatment Bone marrow transplatation: Yes: Date: 1999
Treatment Donor: matched sibling
Treatment Outcome: alive and well
Treatment T-cell chimerism: donor
Age 1 mo
Sex XY
Ethnic origin Taiwan
Family history Inherited
//
ID #G358X493(1); standard; MUTATION;
Accession W0232
Systematic name g.36599_36600delGA, c.1073_1074delGA, r.1073_1074delga,
Systematic name p.Gly358fsX136
Description A frame shift deletion mutation in the exon 10 leading to a
Description premature stop codon
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 36599..36600
Feature /change: -ga
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1107..1108
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 358
Feature /change: G ->
Feature /change: APTPRPRGPS TTTPSSYWTF WTTAPSTPWS WWATHATTTA
Feature /change: TTATAAQLRE WTSPSPTPSC SGACRGPGPW WGSGSAFGSN
Feature /change: PAGNSAEQDP WGPRELSAAA TTSELRGTGG GPDARDAEEK
Feature /change: QSHPLLRRRG GPGWRX
Ethnic origin US
//
ID #P360X444(1); standard; MUTATION; PP4
Accession W0233
Systematic name g.36605delC, c.1079delC, r.1079delc, p.Pro360fsX85
Description A frame shift deletion mutation in the exon 10 leading to a
Description premature stop codon in the PP4 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 36605
Feature /change: -c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1113
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 360
Feature /change: P ->
Feature /change: HPQAEGALHH HPLQLLDVLD HCPLHPLELV GHPCHHHRHH
Feature /change: RHRRPAPGMD QPLPHSLLLW CLPGAWPLVG VGERFWIKSG REFSX
Feature /domain: PP4
Ethnic origin Germany
//
ID #P360X444(2); standard; MUTATION; PP4
Accession W0234
Systematic name g.36605delC, c.1079delC, r.1079delc, p.Pro360fsX85
Description A frame shift deletion mutation in the exon 10 leading to a
Description premature stop codon in the PP4 domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 36605
Feature /change: -c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1113
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 360
Feature /change: P ->
Feature /change: HPQAEGALHH HPLQLLDVLD HCPLHPLELV GHPCHHHRHH
Feature /change: RHRRPAPGMD QPLPHSLLLW CLPGAWPLVG VGERFWIKSG REFSX
Feature /domain: PP4
Ethnic origin Japan
//
ID R364X(1); standard; MUTATION;
Accession W0062
Systematic name g.36616C>T, c.1090C>T, r.1090c>u, p.Arg364X
Original code W21
Description A point mutation in the exon 10 leading to a premature stop
Description codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 36616
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 1124
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 364
Feature /change: R -> X
Diagnosis Wiskott Aldrich syndrome
Age 7
Sex XY
//
ID R364X(2a); standard; MUTATION;
Accession W0235
Systematic name g.36616C>T, c.1090C>T, r.1090c>u, p.Arg364X
Description A point mutation in the exon 10 leading to a premature stop
Description codon
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 36616
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 1124
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 364
Feature /change: R -> X
Ethnic origin France
Relative WASbase; W0236
//
ID R364X(2b); standard; MUTATION;
Accession W0236
Systematic name g.36616C>T, c.1090C>T, r.1090c>u, p.Arg364X
Description A point mutation in the exon 10 leading to a premature stop
Description codon
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 36616
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: U12707; GI:695150; : 1124
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 364
Feature /change: R -> X
Ethnic origin France
Relative WASbase; W0235
//
ID #P384X444(1); standard; MUTATION; PP6
Accession W0007
Systematic name g.36677delC, c.1185delC, p.P384fsX444
Original code BSW325
Description Deletion in the exon 10 leading to a premature stop codon
Description in the PP6 domain
Date 12-Nov-2002 (Rel. 7, Created)
Date 12-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (12-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 36677
Feature /change: -c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1185
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 384
Feature /change: P
Feature /change: -> HPLELVGHPC HHHRHHRHRR PAPGMDQPLP HSLLLWCLPG
Feature /change: AWPLVGVGER FWIKSGREFS X
Feature /domain: PP6
mRNA level Reduced
Protein level Absent
Protein struct fs stop aa 444
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 16/05/93
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 43; Size: 4.3
Symptoms Most recent: Date: 29/04/96; Count: 115; Size: 6.2
Symptoms After splenectomy: Count: 445; Size: 6.2
Symptoms Anti-platelet antibodies demonstrated:yes
Symptoms Evidence for accessory spleen:yes
Symptoms Eczema: severe (generalized)
Symptoms Infections: mild
Symptoms Autoimmune disease: yes
Symptoms vasculitis
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 16/05/93
IgA 214 mg/dL, compare with normal for age: normal
IgE 1820 kU/L, compare with normal for age: high
IgG 714 mg/dL, compare with normal for age: normal
IgM 136 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: B Rh +
Response Isoagglutinins: anti-A: YES; anti-B: NO
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 16/05/93
Lymphocytes total lymphocytes: 5950/mm3
Lymphocytes total CD4: 2618/mm3
Lymphocytes total CD8: 1309/mm3
Lymphocytes most recent: 30/04/96
Lymphocytes total lymphocytes: 1980/mm3
Lymphocytes total CD4: 590/mm3
Lymphocytes total CD8: 60/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA: not done
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: yes; Date: 09/02/95
Treatment IVIG: constant
Treatment date started: 22/02/94
Treatment Still on IVIG, dose: 200mg/Kg/ 3 weeks
Treatment responding to infection: good
Treatment responding to autoimmunity: no effect
Treatment responding to thrombocytopenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL: constant
Treatment No bone marrow transplatation
//
ID @P384X494(1); standard; MUTATION; PP6
Accession W0115
Systematic name g.36677dupC, c.1151dupC, r.1151dupc, p.Pro385fsX110
Original code P13
Description A frame shift duplication mutation in the exon 10 leading
Description to a premature stop codon in the PP6 domain
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 36678
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1186
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 384
Feature /change: P ->
Feature /change: PTPWSWWATH ATTTATTATA AQLREWTSPS PTPSCSGACR
Feature /change: GPGPWWGSGS AFGSNPAGNS AEQDPWGPRE LSAAATTSEL
Feature /change: RGTGGGPDAR DAEEKQSHPL LRRRGGPGWR X
Feature /domain: PP6
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 10,000/µl
Symptoms Eczema; Perianal abscess; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 131 mg/dL
IgE 5669 IU/L
IgG 1,586 mg/dL
IgM 145 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 18%
Lymphocytes CD8: 16%
Age 1.8
Sex XY
Ethnic origin China
Family history Inherited
Comment Patient's mother is carrier of the mutation.
//
ID @L415X494(1); standard; MUTATION;
Accession W0116
Systematic name g.36768dupA, c.1242dupA, r.1242dupa, p.Leu415fsX80
Original code P16
Description A frame shift duplication mutation in the exon 10 leading
Description to a premature stop codon
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AF196970: 36769
Feature /change: +a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1277
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 415
Feature /change: L ->
Feature /change: TPSCSGACRG PGPWWGSGSA FGSNPAGNSA EQDPWGPREL
Feature /change: SAAATTSELR GTGGGPDARD AEEKQSHPLL RRRGGPGWRX
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 17,000/µl
Symptoms Eczema; Diarrhoea; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
Age 5 mo
Sex XY
Ethnic origin China
Family history De novo
//
ID #R431X443(1); standard; MUTATION;
Accession W0041
Systematic name g.36818_36821delGGGG, c.1292_1295delGGGG,
Systematic name r.1292_1295delgggg, p.Arg431fsX13
Original code P3
Description A frame shift deletion mutation in the exon 10 leading to a
Description premature stop codon
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15469902
RefAuthors Kim, M. K., Kim, E. S., Kim, D. S., Choi, I. H., Moon, T.,
RefAuthors Yoon, C. N., Shin, J. S.
RefTitle Two novel mutations of wiskott-aldrich syndrome: the
RefTitle molecular prediction of interaction between the mutated
RefTitle WASP L101P with WASP-interacting protein by molecular
RefTitle modeling.
RefLoc Biochim Biophys Acta:134-140 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 36818..36821
Feature /change: -gggg
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: U12707; GI:695150; : 1326..1329
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 431..432
Feature /change: RG -> QRFWIKSGRE FSX
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 14,700/µL
Symptoms Eczema, petechiae
Symptoms Infections
Symptoms Viral: CMV
IgE 2310 IU/ml, compare with normal for age: high
Age 1.5
Sex XY
//
ID P460S(1); standard; MUTATION;
Accession W0054
Systematic name g.37157C>T, c.1378C>T, r.1378c>u, p.Pro460Ser
Original code W14
Description A point mutation in the exon 11 leading to an amino acid
Description change
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 37157
Feature /change: c -> t
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 1412
Feature /codon: cct -> tct; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 460
Feature /change: P -> S
Diagnosis Wiskott Aldrich syndrome
Age 0.75
Sex XY
//
ID P460S/M474T(1); standard; MUTATION;
Accession W0103
Systematic name g.[37157C>T;37200T>C], c.[1378C>T;1421T>C],
Systematic name r.[1378c>u;1421u>c], p.[Pro460Ser/Met474Thr]
Original code P13
Description Two point mutations in the exon 11 leading to two
Description amino acid changes
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20232122
RefAuthors Lee, W. I., Huang, J. L., Jaing, T. H., Wu, K. H., Chien,
RefAuthors Y. H., Chang, K. W.
RefTitle Clinical aspects and genetic analysis of taiwanese
RefTitle patients with wiskott-aldrich syndrome protein mutation:
RefTitle the first identification of x-linked thrombocytopenia in
RefTitle the chinese with novel mutations.
RefLoc J Clin Immunol:593-601 (2010)
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: EMBL: AF196970: 37157
Feature /change: c -> t
Feature /genomic_region: exon; 11
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: EMBL: AF196970: 37200
Feature /change: t -> c
Feature /genomic_region: exon; 11
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 1412
Feature /codon: cct -> tct; 1
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 1455
Feature /codon: atg -> acg; 2
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 460
Feature /change: P -> S
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 474
Feature /change: M -> T
Diagnosis Date: 2007
Diagnosis X-linked thrombocytopenia
Symptoms Failure to thrive; Cerebral plasy;
Symptoms Mental retardation
IgA 285 IU/L
IgE 7 IU/L
IgG 694 mg/dL
IgM 67 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 42%
Lymphocytes CD8: 22%
Age 10
Sex XY
Ethnic origin Taiwan
Family history De novo
//
ID R477K(1); standard; MUTATION;
Accession W0237
Systematic name g.37209G>A, c.1430G>A, r.1430g>a, p.Arg477Lys
Description A point mutation in the exon 11 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 37209
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 1464
Feature /codon: aga -> aaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 477
Feature /change: R -> K
Ethnic origin Spain
//
ID I481N(1a); standard; MUTATION;
Accession W0238
Systematic name g.37221T>A, c.1442T>A, r.1442u>a, p.Ile481Asn
Description A point mutation in the exon 11 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 37221
Feature /change: t -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 1476
Feature /codon: atc -> aac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 481
Feature /change: I -> N
Ethnic origin Italy
Relative WASbase; W0239
//
ID I481N(1b); standard; MUTATION;
Accession W0239
Systematic name g.37221T>A, c.1442T>A, r.1442u>a, p.Ile481Asn
Description A point mutation in the exon 11 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 37221
Feature /change: t -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 1476
Feature /codon: atc -> aac; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 481
Feature /change: I -> N
Ethnic origin Italy
Relative WASbase; W0238
//
ID D485G(1a); standard; MUTATION; DQ
Accession W0085
Systematic name g.38907A>G, c.1454A>G, r.1454a>g, p.Asp485Gly
Original code I.1
Description A point mutation in the exon 12 leading to an amino acid
Description change in the DQ domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17390083
RefAuthors Andreu, N., Matamoros, N., Escudero, A., Fillat, C.
RefTitle Two novel mutations identified in the wiskott-aldrich
RefTitle syndrome protein gene cause wiskott-aldrich syndrome and
RefTitle thrombocytopenia.
RefLoc Int J Mol Med:777-782 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 38907
Feature /change: a -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 1488
Feature /codon: gac -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 485
Feature /change: D -> G
Feature /domain: DQ
Symptoms Platelets
Symptoms At date of diagnosis: Count: 39,000/mm3
Symptoms ITP
IgA 337 mg/dL
IgE 1290 mg/dL
IgG 1090 mg/dL
IgM 165 mg/dL
Treatment Corticosteroid
Sex XX
Ethnic origin Spain
Relative WASbase; W0086 son
Relative WASbase; W0087 son
Comment Patient's daughter is carrier of the same mutation.
//
ID D485G(1b); standard; MUTATION; DQ
Accession W0086
Systematic name g.38907A>G, c.1454A>G, r.1454a>g, p.Asp485Gly
Original code II.2
Description A point mutation in the exon 12 leading to an amino acid
Description change in the DQ domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17390083
RefAuthors Andreu, N., Matamoros, N., Escudero, A., Fillat, C.
RefTitle Two novel mutations identified in the wiskott-aldrich
RefTitle syndrome protein gene cause wiskott-aldrich syndrome and
RefTitle thrombocytopenia.
RefLoc Int J Mol Med:777-782 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 38907
Feature /change: a -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 1488
Feature /codon: gac -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 485
Feature /change: D -> G
Feature /domain: DQ
Diagnosis X-linked thrombocytopenia
Symptoms Platelets
Symptoms At date of diagnosis: Count: 187,000/mm3
IgA 421 mg/dL
IgE <2 mg/dL
IgG 699 mg/dL
IgM 85 mg/dL
Sex XY
Ethnic origin Spain
Relative WASbase; W0085 mother
Relative WASbase; W0087 brother
Comment Patient's sister is carrier of the same mutation.
//
ID D485G(1c); standard; MUTATION; DQ
Accession W0087
Systematic name g.38907A>G, c.1454A>G, r.1454a>g, p.Asp485Gly
Original code II.1
Description A point mutation in the exon 12 leading to an amino acid
Description change in the DQ domain
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17390083
RefAuthors Andreu, N., Matamoros, N., Escudero, A., Fillat, C.
RefTitle Two novel mutations identified in the wiskott-aldrich
RefTitle syndrome protein gene cause wiskott-aldrich syndrome and
RefTitle thrombocytopenia.
RefLoc Int J Mol Med:777-782 (2007)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 38907
Feature /change: a -> g
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 1488
Feature /codon: gac -> ggc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 485
Feature /change: D -> G
Feature /domain: DQ
Diagnosis X-linked thrombocytopenia
Symptoms Platelets
Symptoms At date of diagnosis: Count: 115,000/mm3
IgA 296 mg/dL
IgE 60 mg/dL
IgG 882 mg/dL
IgM 105 mg/dL
Sex XY
Ethnic origin Spain
Relative WASbase; W0085 mother
Relative WASbase; W0086 brother
Comment Patient's sister is carrier of the same mutation.
//
ID D485N(1); standard; MUTATION; DQ
Accession W0117
Systematic name g.37232G>A, c.1453G>A, r.1453g>a, p.Asp485Asn
Original code P17
Description A point mutation in the exon 11 leading to an amino acid
Description change in the DQ domain
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 37232
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 1487
Feature /codon: gac -> aac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 485
Feature /change: D -> N
Feature /domain: DQ
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 49,000/µl
Symptoms Eczema; Petechiae; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 205 mg/dL
IgE 215 IU/L
IgG 1,080 mg/dL
IgM 178 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 22%
Lymphocytes CD8: 25%
Age 1.3
Sex XY
Ethnic origin China
Family history De novo
Comment Patient's mother and aunt are carriers of the mutation.
//
ID D485N(2); standard; MUTATION; DQ
Accession W0240
Systematic name g.37232G>A, c.1453G>A, r.1453g>a, p.Asp485Asn
Description A point mutation in the exon 11 leading to an amino acid
Description change in the DQ domain
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 37232
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: U12707; GI:695150; : 1487
Feature /codon: gac -> aac; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 485
Feature /change: D -> N
Feature /domain: DQ
Ethnic origin US
//
ID @X503+76(1a); standard; MUTATION;
Accession W0241
Systematic name g.38961G>C, c.1508G>C, r.1508g>c, p.503
Description A point mutation in the exon 12 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 38961
Feature /change: g -> c
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: terminator
Feature /loc: EMBL: U12707; GI:695150; : 1542
Feature aa; 3
Feature /rnalink: 2
Feature /name: elongation
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 503
Feature /change: X ->
Feature /change: SVAELLAALC SSPQDMAPPP PALCPPSTLL FQGPQPPISS
Feature /change: PPTPPMLLSL PGPHTHPTIP RPFLYKNSQF SSLKDFX
Ethnic origin US
Relative WASbase; W0242
//
ID @X503+76(1b); standard; MUTATION;
Accession W0242
Systematic name g.38961G>C, c.1508G>C, r.1508g>c, p.503
Description A point mutation in the exon 12 leading to an amino acid
Description change
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 38961
Feature /change: g -> c
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: terminator
Feature /loc: EMBL: U12707; GI:695150; : 1542
Feature aa; 3
Feature /rnalink: 2
Feature /name: elongation
Feature /loc: SWISSPROT: P42768; WASP_HUMAN: 503
Feature /change: X ->
Feature /change: SVAELLAALC SSPQDMAPPP PALCPPSTLL FQGPQPPISS
Feature /change: PPTPPMLLSL PGPHTHPTIP RPFLYKNSQF SSLKDFX
Ethnic origin US
Relative WASbase; W0241
//
ID Intron 1(1); standard; MUTATION; WH1
Accession W0033
Systematic name g.32080G>C, c.133-1G>C, r.133-1g>c
Original code Case1
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 08-Jul-2010 (Rel. 1, Created)
Date 08-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15497008
RefAuthors Chien, Y. H., Hwu, W. L., Ariga, T., Chang, K. W., Yang,
RefAuthors Y. H., Lin, K. H., Chiang, B. L.
RefTitle Molecular diagnosis of wiskott-aldrich syndrome in taiwan.
RefLoc J Microbiol Immunol Infect:276-281 (2004)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32080
Feature /change: g -> c
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Deceased Age at death: 2; Cause of death: Epstein-Barr virus-related
Deceased lymphoproliferative disorder
Symptoms Platelets
Symptoms At date of diagnosis: Count: 5000/µL
IgA 123 mg/dL
IgG 820 mg/dL
IgM <20 mg/dL
Treatment Bone marrow transplatation: Yes
Treatment Donor: mismatched family donor
Age 1.5
Sex XY
Ethnic origin Taiwan
Family history Inherited
//
ID Intron 1(2); standard; MUTATION; WH1
Accession W0101
Systematic name g.32080G>C, c.133-1G>C, r.133-1g>c
Original code P7
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20232122
RefAuthors Lee, W. I., Huang, J. L., Jaing, T. H., Wu, K. H., Chien,
RefAuthors Y. H., Chang, K. W.
RefTitle Clinical aspects and genetic analysis of taiwanese
RefTitle patients with wiskott-aldrich syndrome protein mutation:
RefTitle the first identification of x-linked thrombocytopenia in
RefTitle the chinese with novel mutations.
RefLoc J Clin Immunol:593-601 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 32080
Feature /change: g -> c
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: WH1
Diagnosis Date: 1998
Diagnosis Wiskott Aldrich syndrome
Deceased Age at death: 2.5
Symptoms Infections:
Symptoms Bacterial: sepsis
Symptoms Severe skin infections; lymphoproliferative disorder;
Symptoms Recurrent sinopulmonary infections
Symptoms Autoimmune disease:
Symptoms Hemolytic anemia; EBV associated
IgA 123 IU/L
IgE 1,436 IU/L, compare with normal for age: high
IgG 820 mg/dL
IgM 17 mg/dL, compare with normal for age: low
Lymphocytes At diagnosis:
Lymphocytes CD4: 30%
Lymphocytes CD8: 14%
Treatment Bone marrow transplatation: Yes: Date: 1998
Treatment Donor: mismatched family donor
Treatment Outcome: alive
Age 23 days
Sex XY
Ethnic origin Taiwan
Family history Inherited
//
ID Intron 1(3); standard; MUTATION; WH1
Accession W0118
Systematic name g.31784G>T, c.132+1G>T, r.132+1g>u
Original code P18
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31784
Feature /change: g -> t
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 70,000/µl
Symptoms Eczema; Bloody stool; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 86 mg/dL
IgE 836.1 IU/L
IgG 1,169 mg/dL
IgM 91 mg/dL
Age 1
Sex XY
Ethnic origin China
Family history Inherited
Comment Patient's mother is carrier of the mutation.
//
ID Intron 1(4); standard; MUTATION; WH1
Accession W0119
ystematic name g.31784G>A, c.132+1G>A, r.132+1g>a
Original code P19
Description A point mutation in the intron 1 leading to aberrant
Description splicing
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 31784
Feature /change: g -> a
Feature /genomic_region: intron; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: WH1
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 40,000/µl
Symptoms Eczema; Bloody stool; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 228 mg/dL
IgE 1070 IU/L
IgG 897 mg/dL
IgM 41 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 9%
Lymphocytes CD8: 64%
Age 3
Sex XY
Ethnic origin China
Family history De novo
Comment Patient's mother is carrier of the mutation.
//
ID Intron 3(1); standard; MUTATION;
Accession W0120
Systematic name g.33432G>A, c.360+1G>A, r.360+1g>a
Original code P20
Description A point mutation in the intron 3 leading to aberrant
Description splicing
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33432
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 51,000/µl
Symptoms Eczema; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 87 mg/dL
IgE 123 IU/L
IgG 1,060 mg/dL
IgM 71 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 18.9%
Lymphocytes CD8: 19.7%
Age 1.5
Sex XY
Ethnic origin China
Family history De novo
//
ID Intron 3(2); standard; MUTATION;
Accession W0243
Systematic name g.33432G>A, c.360+1G>A, r.360+1g>a
Description A point mutation in the intron 3 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33432
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin Japan
//
ID Intron 3(3); standard; MUTATION;
Accession W0244
Systematic name g.33531G>A, c.361-1G>A, r.361-1g>a
Description A point mutation in the intron 3 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33531
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin US
Relative Description of pedigree:
//
ID Intron 4(1); standard; MUTATION;
Accession W0072
Systematic name g.33740_33743delACAG, c.464-4_464-1delACAG,
Systematic name r.464-4_464-1delacag
Original code W32
Description A deletion in the intron 4 leading to aberrant splicing
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 33740..33743
Feature /change: -acag
Feature /genomic_region: intron; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -4
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Age 0.5
Sex XY
//
ID Intron 6(1); standard; MUTATION;
Accession W0073
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Original code W33
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Age 38
Sex XY
//
ID Intron 6(2); standard; MUTATION;
Accession W0074
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Original code W34
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Age 8
Sex XY
//
ID Intron 6(3); standard; MUTATION;
Accession W0075
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Original code W35
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Age 17
Sex XY
//
ID Intron 6(4); standard; MUTATION;
Accession W0076
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Original code W36
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Age 2
Sex XY
//
ID Intron 6(5a); standard; MUTATION;
Accession W0245
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin US
Relative WASbase; W0246;
//
ID Intron 6(5b); standard; MUTATION;
Accession W0246
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin US
Relative WASbase; W0245;
//
ID Intron 6(6a); standard; MUTATION;
Accession W0247
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin US
Relative WASbase; W0248;
//
ID Intron 6(6b); standard; MUTATION;
Accession W0248
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin US
Relative WASbase; W0247;
//
ID Intron 6(7a); standard; MUTATION;
Accession W0249
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin US
Relative WASbase; W0250;
//
ID Intron 6(7b); standard; MUTATION;
Accession W0250
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin US
Relative WASbase; W0249;
//
ID Intron 6(8); standard; MUTATION;
Accession W0251
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin US
//
ID Intron 6(9); standard; MUTATION;
Accession W0252
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin US
//
ID Intron 6(10); standard; MUTATION;
Accession W0253
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin US
//
ID Intron 6(11a); standard; MUTATION;
Accession W0254
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin Germany
Relative WASbase; W0255;
//
ID Intron 6(11b); standard; MUTATION;
Accession W0255
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin Germany
Relative WASbase; W0254;
//
ID Intron 6(12); standard; MUTATION;
Accession W0256
Systematic name g.33937G>A, c.559+5G>A, r.559+5g>a
Description A point mutation in the intron 6 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 33937
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin UK
//
ID Intron 7(1); standard; MUTATION; CRIB
Accession W0013
Systematic name g.IVS7+1G>T, c.734+1G>T, r.734+1g>u
Original code BSW520
Description A point mutation in the intron 7 leading to an amino acid
Description change in the CRIB domain
Date 18-Nov-2002 (Rel. 7, Created)
Date 18-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (18-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34754
Feature /change: g -> t
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: CRIB
mRNA level N.D.
Protein level Absent
Protein struct IVS7 +1 g>t
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 3/8/99
Diagnosis Wiskott Aldrich syndrome
Deceased Age at death: 1; Cause of death: PNEUMONIA- RESPIRATORY
Deceased FAILURE
Symptoms Platelets
Symptoms At date of diagnosis: Count: 48; Size: 3.8
Symptoms Most recent: Date: 27/09/99; Count: 58; Size: 5.5
Symptoms Anti-platelet antibodies demonstrated:not done
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: never
Symptoms Infections: none
Symptoms Autoimmune disease: yes
Symptoms vasculitis
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 3/8/99
IgA 46 mg/dL, compare with normal for age: high
IgE <2 kU/L, compare with normal for age: normal
IgG 741 mg/dL, compare with normal for age: low
IgM 30 mg/dL, compare with normal for age: high
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: absent
Response Other: not done
Response Other: not done
Response Blood group: 0 Rh +
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 03/08/99
Lymphocytes total lymphocytes: 4440/mm3
Lymphocytes total CD4: 2672/mm3
Lymphocytes total CD8: 608/mm3
Lymphocytes most recent: 27/09/99
Lymphocytes total lymphocytes: 4368/mm3
Lymphocytes total CD4: 2620/mm3
Lymphocytes total CD8: 568/mm3
Lymphocytes total B: 735/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 27/09/99: normal
Lymphocytes anti-CD3, date: 27/09/99: low
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: constant
Treatment date started: 03/08/99
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL: constant
Treatment Bone marrow transplatation: Yes: Date: 14/04/01
Treatment Donor: MUD
Treatment Source: full marrow
Treatment Outcome
Treatment BMT-related problems: death, acute GvHD grade >3, on
Treatment T-cell chimerism: donor
//
ID Intron 7(2a); standard; MUTATION; CRIB
Accession W0257
Systematic name g.34758G>A, c.734+5G>A, r.734+5g>a
Description A point mutation in the intron 7 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34758
Feature /change: g -> a
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: CRIB
Ethnic origin Germany
Relative WASbase; W0258;
Relative WASbase; W0259;
Relative WASbase; W0260;
//
ID Intron 7(2b); standard; MUTATION; CRIB
Accession W0258
Systematic name g.34758G>A, c.734+5G>A, r.734+5g>a
Description A point mutation in the intron 7 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34758
Feature /change: g -> a
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: CRIB
Ethnic origin Germany
Relative WASbase; W0257;
Relative WASbase; W0259;
Relative WASbase; W0260;
//
ID Intron 7(2c); standard; MUTATION; CRIB
Accession W0259
Systematic name g.34758G>A, c.734+5G>A, r.734+5g>a
Description A point mutation in the intron 7 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34758
Feature /change: g -> a
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: CRIB
Ethnic origin Germany
Relative WASbase; W0257;
Relative WASbase; W0258;
Relative WASbase; W0260;
//
ID Intron 7(2d); standard; MUTATION; CRIB
Accession W0260
Systematic name g.34758G>A, c.734+5G>A, r.734+5g>a
Description A point mutation in the intron 7 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 34758
Feature /change: g -> a
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: CRIB
Ethnic origin Germany
Relative WASbase; W0257;
Relative WASbase; W0258;
Relative WASbase; W0259;
//
ID Intron 7(3a); standard; MUTATION; CRIB
Accession W0261
Systematic name g.35827A>C, c.735-25A>C, r.735-25a>c
Description A point mutation in the intron 7 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 35827
Feature /change: a -> c
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -25
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: CRIB
Ethnic origin UK
Relative WASbase; W0262;
Relative WASbase; W0263;
//
ID Intron 7(3b); standard; MUTATION; CRIB
Accession W0262
Systematic name g.35827A>C, c.735-25A>C, r.735-25a>c
Description A point mutation in the intron 7 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 35827
Feature /change: a -> c
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -25
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: CRIB
Ethnic origin UK
Relative WASbase; W0261;
Relative WASbase; W0263;
//
ID Intron 7(3c); standard; MUTATION; CRIB
Accession W0263
Systematic name g.35827A>C, c.735-25A>C, r.735-25a>c
Description A point mutation in the intron 7 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 35827
Feature /change: a -> c
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -25
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /domain: CRIB
Ethnic origin UK
Relative WASbase; W0261;
Relative WASbase; W0262;
//
ID Intron 8(1); standard; MUTATION;
Accession W0077
Systematic name g.35895delG, c.777+1delG, r.777+1delg
Original code W37
Description A deletion in the intron 8 leading to aberrant splicing
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 35895
Feature /change: -g
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Age 2
Sex XY
//
ID Intron 8(2); standard; MUTATION;
Accession W0078
Systematic name g.35895G>A, c.777+1G>A, r.777+1g>a
Original code W38
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 35895
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Age 0.5
Sex XY
//
ID Intron 8(3); standard; MUTATION;
Accession W0079
Systematic name g.35895G>A, c.777+1G>A, r.777+1g>a
Original code W39
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 35895
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Age 2
Sex XY
//
ID Intron 8(4); standard; MUTATION;
Accession W0080
Systematic name g.35895G>A, c.777+1G>A, r.777+1g>a
Original code W40
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 35895
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Age 11
Sex XY
//
ID Intron 8(5); standard; MUTATION;
Accession W0081
Systematic name g.35896_35899delGAGT, c.777+2_777+5delGAGT,
Systematic name r.777+2_777+5delgagu
Original code W41
Description A deletion in the intron 8 leading to aberrant splicing
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 35896..35899
Feature /change: -tgag
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Age 2
Sex XY
//
ID Intron 8(6); standard; MUTATION;
Accession W0082
Systematic name g.35895G>C, c.777+1G>C, r.777+1g>c
Original code W42
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 09-Jul-2010 (Rel. 1, Created)
Date 09-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 1600273
RefAuthors Natsuda, H., Matsui, Y., Sakauchi, M., Kato, S., Takemura,
RefAuthors H., Suzuki, H., Kono, I., Yamane, K., Kashiwagi, H.
RefTitle Progressive systemic sclerosis complicated with immune
RefTitle thrombocytopenia during D-penicillamine therapy.
RefLoc Intern Med:244-245 (1992)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 35895
Feature /change: g -> c
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Age 1
Sex XY
//
ID Intron 8(7a); standard; MUTATION;
Accession W0096
Systematic name g.35899G>A, c.777+5G>A, r.777+5g>a
Original code P10-1
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20232122
RefAuthors Lee, W. I., Huang, J. L., Jaing, T. H., Wu, K. H., Chien,
RefAuthors Y. H., Chang, K. W.
RefTitle Clinical aspects and genetic analysis of taiwanese
RefTitle patients with wiskott-aldrich syndrome protein mutation:
RefTitle the first identification of x-linked thrombocytopenia in
RefTitle the chinese with novel mutations.
RefLoc J Clin Immunol:593-601 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 35899
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Date: 2001
Diagnosis X-linked thrombocytopenia
Symptoms Infections:
Symptoms Bacterial: sepsis
IgA 269 IU/L
IgE 1,520 IU/L, compare with normal for age: high
IgG 622 mg/dL
IgM 24 mg/dL, compare with normal for age: low
Lymphocytes At diagnosis:
Lymphocytes CD4: 35%
Lymphocytes CD8: 39%
Age 12
Sex XY
Ethnic origin Taiwan
Family history Inherited
Relative WASbase; W0097; sibling
Relative WASbase; W0093; cousin
Relative WASbase; W0094; cousin
Relative WASbase; W0098; cousin
Relative WASbase; W0099; cousin
//
ID Intron 8(7b); standard; MUTATION;
Accession W0097
Systematic name g.35899G>A, c.777+5G>A, r.777+5g>a
Original code P10-2
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20232122
RefAuthors Lee, W. I., Huang, J. L., Jaing, T. H., Wu, K. H., Chien,
RefAuthors Y. H., Chang, K. W.
RefTitle Clinical aspects and genetic analysis of taiwanese
RefTitle patients with wiskott-aldrich syndrome protein mutation:
RefTitle the first identification of x-linked thrombocytopenia in
RefTitle the chinese with novel mutations.
RefLoc J Clin Immunol:593-601 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 35899
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Date: 1995
Diagnosis X-linked thrombocytopenia
Symptoms Infections:
Symptoms Recurrent sinopulmonary infection
IgA 234 IU/L
IgE 1,768 IU/L, compare with normal for age: high
IgG 798 mg/dL
IgM 127 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 37%
Lymphocytes CD8: 28%
Age 5 mo
Sex XY
Ethnic origin Taiwan
Family history Inherited
Relative WASbase; W0096; sibling
Relative WASbase; W0093; cousin
Relative WASbase; W0094; cousin
Relative WASbase; W0098; cousin
Relative WASbase; W0099; cousin
//
ID Intron 8(8); standard; MUTATION;
Accession W0121
Systematic name g.35895G>A, c.777+1G>A, r.777+1g>a
Original code P22
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 35895
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 11,000/µl
Symptoms Eczema; Diarrhoea; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 124 mg/dL
IgE 118.6 IU/L
IgG 711 mg/dL
IgM 135 mg/dL
Age 3
Sex XY
Ethnic origin China
Family history De novo
//
ID Intron 8(9); standard; MUTATION;
Accession W0264
Systematic name g.35895G>A, c.777+1G>A, r.777+1g>a
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 35895
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin Australia
//
ID Intron 8(10); standard; MUTATION;
Accession W0265
Systematic name g.35895G>A, c.777+1G>A, r.777+1g>a
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 35895
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin US
//
ID Intron 8(11); standard; MUTATION;
Accession W0266
Systematic name g.36092G>A, c.778-6G>A, r.778-6g>a
Description A point mutation in the intron 8 leading to aberrant
Description splicing
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 36092
Feature /change: g -> a
Feature /genomic_region: intron; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -6
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin UK
//
ID Intron 9(1); standard; MUTATION;
Accession W0122
Systematic name g.36253T>C, c.931+2T>C, r.931+2u>c
Original code P23
Description A point mutation in the intron 9 leading to aberrant
Description splicing
Date 12-Jul-2010 (Rel. 1, Created)
Date 12-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20546529
RefAuthors Zhang, Z. Y., Xiao, H. Q., Jiang, L. P., Zhou, Y., Zhao,
RefAuthors Q., Yu, J., Liu, W., Yang, X. Q., Zhao, X. D.
RefTitle Analysis of clinical and molecular characteristics of
RefTitle wiskott-aldrich syndrome in 24 patients from 23 unrelated
RefTitle chinese families.
RefLoc Pediatr Allergy Immunol:522-532 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 36253
Feature /change: t -> c
Feature /genomic_region: intron; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 5,000/µl
Symptoms Eczema; Septicemia; bleeding
Symptoms Infections:
Symptoms Recurrent infections
Symptoms Autoimmune disease:
Symptoms thrombocytopenia
IgA 114 mg/dL
IgE 169.3 IU/L
IgG 1,100 mg/dL
IgM 35 mg/dL
Lymphocytes At diagnosis:
Lymphocytes CD4: 19.46%
Lymphocytes CD8: 38.3%
Age 11 mo
Sex XY
Ethnic origin China
Family history Inherited
Comment Patient's mother is carrier of the mutation.
//
ID Intron 10(1); standard; MUTATION;
Accession W0008
Systematic name g.IVS10-3delC, c.1339-3delC, r.1339-3delc
Description A deletion in the intron 10 leading to an amino acid change
Date 13-Nov-2002 (Rel. 7, Created)
Date 13-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (13-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF196970: 37115
Feature /change: -c
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -3
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
mRNA level N.D.
Protein level N.D.
Protein struct IVS 10 -3 del"C"
Sex m
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 02/02/95
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 64; Size: 4.5
Symptoms Most recent: Date: 10/07/02; Count: 370; Size: 7.3
Symptoms Anti-platelet antibodies demonstrated:yes
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: never
Symptoms Infections: severe
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 02/02/95
IgA 82 mg/dL, compare with normal for age: normal
IgE 3 kU/L, compare with normal for age: normal
IgG 2720 mg/dL, compare with normal for age: high
IgM 42 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T: not done
Response PPS: not done
Response HiB: not done
Response Blood group: 0 Rh POS
Response Isoagglutinins: anti-A: NO; anti-B: NO
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 02/02/95
Lymphocytes total lymphocytes: 4900/mm3
Lymphocytes total CD4: 661/mm3
Lymphocytes total CD8: 882/mm3
Lymphocytes total B: 2500/mm3
Lymphocytes most recent: 01/07/02
Lymphocytes total lymphocytes: 3300/mm3
Lymphocytes total CD4: 1122/mm3
Lymphocytes total CD8: 660/mm3
Lymphocytes total B: 530/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 01/07/02: normal
Lymphocytes anti-CD3, date: 01/07/02: normal
Treatment Splenectomy: no
Treatment IVIG: constant
Treatment date started: 08/02/95
Treatment No still on IVIG
Treatment Still on IVIG
Treatment responding to infection: good
Treatment responding to autoimmunity: no effect
Treatment responding to thrombocytopenia: no effect
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment ANTIVIRAL, ANTIFUNGAL: constant
Treatment Bone marrow transplatation: Yes: Date: 25/05/95
Treatment Donor: matched sibling
Treatment Source: full marrow
Treatment Outcome: alive and well
Treatment T-cell chimerism: donor
//
ID Intron 10(2); standard; MUTATION;
Accession W0010
Systematic name g.IVS10-2A>T, c.1339-2A>T, r.1339-2a>u,
Description A point mutation in the intron 10 leading to an amino acid
Description change
Date 14-Nov-2002 (Rel. 7, Created)
Date 14-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (14-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 37116
Feature /change: a -> t
Feature /genomic_region: intron; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
mRNA level N.D.
Protein level Reduced
Protein struct IVS 10 -2 a>t
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 02/05/90
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 24; Size: 4.4
Symptoms Most recent: Date: 24/04/95; Count: 349
Symptoms Anti-platelet antibodies demonstrated:no
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: never
Symptoms Infections: none
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 02/05/90
IgA 50 mg/dL, compare with normal for age: normal
IgE 27 kU/L, compare with normal for age: normal
IgG 637 mg/dL, compare with normal for age: normal
IgM 50 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T, date: 16/06/90: normal
Response PPS, date: 16/06/90: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: B Rh +
Response Isoagglutinins: anti-A: NO; anti-B: NO
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 30/07/90
Lymphocytes total lymphocytes: 3402/mm3
Lymphocytes total CD4: 1122/mm3
Lymphocytes total CD8: 1054/mm3
Lymphocytes total B: 68/mm3
Lymphocytes most recent: 06/04/93
Lymphocytes total lymphocytes: 4725/mm3
Lymphocytes total CD4: 1653/mm3
Lymphocytes total CD8: 1507/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 18/08/91: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: never
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment Bone marrow transplatation: Yes: Date: 26/06/90
Treatment Donor: matched sibling
Treatment Source: full marrow
Treatment Outcome: alive and well
Treatment BMT-related problems: liver disease
Treatment T-cell chimerism: donor
//
ID Intron 10(3); standard; MUTATION;
Accession W0011
Systematic name g.IVS11+0->A
Description Point mutation in the intron 11 leading to an amino acid
Description change
Date 14-Nov-2002 (Rel. 7, Created)
Date 14-Nov-2002 (Rel. 7, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (14-Nov-2002) to WASPbase.
RefLoc Luigi D. Notarangelo, Dept. Pediatrics - Spedali Civili -
RefLoc Brescia - Italy, Tel 339303995715, Fax 339303388099,
RefLoc e-mail notarang@master.cci.unibs.it
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF196970: 37233
Feature /change: t -> a
Feature /genomic_region: intron; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +0
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
mRNA level N.D.
Protein level Reduced
Sex M
Ethnic origin Caucasoid; ITALY
Diagnosis Date: 02/05/90
Diagnosis Wiskott Aldrich syndrome
Symptoms Platelets
Symptoms At date of diagnosis: Count: 24; Size: 4.4
Symptoms Most recent: Date: 24/04/95; Count: 349
Symptoms Anti-platelet antibodies demonstrated:no
Symptoms Evidence for accessory spleen:no
Symptoms Eczema: never
Symptoms Infections: none
Symptoms Autoimmune disease: no
Symptoms Malignancy: no
Immunoglobulins date (closest to diagnosis): 02/05/90
IgA 50 mg/dL, compare with normal for age: normal
IgE 27 kU/L, compare with normal for age: normal
IgG 637 mg/dL, compare with normal for age: normal
IgM 50 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T, date: 16/06/90: normal
Response PPS, date: 16/06/90: not done
Response HiB: not done
Response Other: not done
Response Other: not done
Response Blood group: B Rh +
Response Isoagglutinins: anti-A: NO; anti-B: NO
Lymphocytes Lymphocytes
Lymphocytes at diagnosis: 30/07/90
Lymphocytes total lymphocytes: 3402/mm3
Lymphocytes total CD4: 1122/mm3
Lymphocytes total CD8: 1054/mm3
Lymphocytes total B: 68/mm3
Lymphocytes most recent: 06/04/93
Lymphocytes total lymphocytes: 4725/mm3
Lymphocytes total CD4: 1653/mm3
Lymphocytes total CD8: 1507/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 18/08/91: normal
Lymphocytes anti-CD3: not done
Lymphocytes antigens: not done
Lymphocytes alloantigens: not done
Treatment Splenectomy: no
Treatment IVIG: never
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment Bone marrow transplatation: Yes: Date: 26/06/90
Treatment Donor: matched sibling
Treatment Source: full marrow
Treatment Outcome: alive and well
Treatment BMT-related problems: liver disease
Treatment T-cell chimerism: donor
//
ID Insertion(1); standard; MUTATION;
Accession W0267
Systematic name c.(931_932)ins250
Description Insertion of 250 basepair in intron 9
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin Japan
//
ID Insertion(2a); standard; MUTATION;
Accession W0268
Systematic name c.(1484_1485)ins118
Description Insertion of 118 basepair in intron 11
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin Japan
Relative WASbase; W0269;
//
ID Insertion(2b); standard; MUTATION;
Accession W0269
Systematic name c.(1484_1485)ins118
Description Insertion of 118 basepair in intron 11
Date 24-Aug-2010 (Rel. 1, Created)
Date 24-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20173115
RefAuthors Albert, M. H., Bittner, T. C., Nonoyama, S., Notarangelo,
RefAuthors L. D., Burns, S., Imai, K., Espanol, T., Fasth, A.,
RefAuthors Pellier, I., Strauss, G., Morio, T., Gathmann, B.,
RefAuthors Noordzij, J. G., Fillat, C., Hoenig, M., Nathrath, M.,
RefAuthors Meindl, A., Pagel, P., Wintergerst, U., Fischer, A.,
RefAuthors Thrasher, A. J., Belohradsky, B. H., Ochs, H. D.
RefTitle X-linked thrombocytopenia (XLT) due to WAS mutations:
RefTitle clinical characteristics, long-term outcome, and treatment
RefTitle options.
RefLoc Blood:3231-3238 (2010)
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Ethnic origin Japan
Relative WASbase; W0268;
//
//
|
