Database ZAP70base
Version 1.4
File zap70pub.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/ZAP70base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF62.html
Gene ZAP70
Disease Autosomal recessive ZAP-70 immunodeficiency
OMIM 176947
GDB 433738
Sequence IDRefSeq: D0057; IDRefSeq: D0057; UniProt:P43403
Numbering Start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID P80Q(1),M572L(1); standard; MUTATION; SH2_1,TK
Accession Z0006
Systematic name Allele 1: g.11708C>A, c.239C>A, r.239c>a, p.Pro80Gln
Systematic name Allele 2: g.25518A>T, c.1714A>T, r.1714a>u, p.Met572Leu
Description Allele 1: A point mutation in the exon 3 leading to an
Description amino acid change in the SH2_1 domain
Description Allele 2: A point mutation in the exon 13 leading to an
Description amino acid change in the SH2_1 domain
Date 24-Oct-2000 (Rel. 1, Created)
Date 14-Aug-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10574909
RefAuthors Matsuda, S., Suzuki-Fujimoto, T., Minowa, A., Ueno, H.,
RefAuthors Katamura, K., Koyasu, S.
RefTitle Temperature-sensitive ZAP70 mutants degrading through a
RefTitle proteasome-independent pathway. restoration of a kinase
RefTitle domain mutant by cdc37.
RefLoc J Biol Chem 274:34515-34518 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 11708
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 448
Feature /codon: ccg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 80
Feature /change: P -> Q
Feature /domain: SH2_1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25518
Feature /change: a -> t
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1923
Feature /codon: atg -> ttg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 572
Feature /change: M -> L
Feature /domain: TK
Diagnosis T-B- severe combined immunodeficiency
//
ID L337R(1),L337R(1); standard; MUTATION;
Accession Z0016
Systematic name Allele 1 and 2: g.22073T>G, c.1010T>G, r.1010u>g,
Systematic name p.Leu337Arg
Original code P.2
Description Allele 1 and 2: A point mutation in the exon 9 leading to
Description an amino acid change
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18509675
RefAuthors Turul, T., Tezcan, I., Artac, H., de Bruin-Versteeg, S.,
RefAuthors Barendregt, B. H., Reisli, I., Sanal, O., van Dongen, J.
RefAuthors J., van der Burg, M.
RefTitle Clinical heterogeneity can hamper the diagnosis of
RefTitle patients with ZAP70 deficiency.
RefLoc Eur J Pediatr:87-93 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 22073
Feature /change: t -> g
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057; GI:1177044; ZAP70C: 1219
Feature /codon: ctc -> cgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: ZAP70_HUMAN: 337
Feature /change: L -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 22073
Feature /change: t -> g
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0057; GI:1177044; ZAP70C: 1219
Feature /codon: ctc -> cgc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: ZAP70_HUMAN: 337
Feature /change: L -> R
Diagnosis T-B- severe combined immunodeficiency
Symptoms Recurrent gastroenteritis; Lower respiratory tract
Symptoms infections; Oral moniliasis;
Age 13 mo
Sex XX
Ethnic origin Turkey
IgA 23 mg/dl
IgG 785 mg/dl
IgM 179 mg/dl
Comment Patient died of multiorgan failure.
//
ID R465C(1),R465C(1); standard; MUTATION; TK,TK
Accession Z0012
Systematic name Allele 1 and 2: g.14540C>T, c.1602C>T, p.R465C
Description Allele 1 and 2: point mutation in the exon 9 leading to an
Description amino acid change in the TK domain
Date 03-Mar-2003 (Rel. 1, Created)
Date 03-Mar-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11123350
RefAuthors Elder, M. E., Skoda-Smith, S., Kadlecek, T. A., Wang, F.,
RefAuthors Wu, J., Weiss, A.
RefTitle Distinct T cell developmental consequences in humans and
RefTitle mice expressing identical mutations in the DLAARN motif of
RefTitle ZAP-70.
RefLoc J Immunol 166:656-661 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25009
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1602
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 465
Feature /change: R -> C
Feature /domain: TK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25009
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1602
Feature /codon: cgc -> tgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 465
Feature /change: R -> C
Feature /domain: TK
Diagnosis T-B- severe combined immunodeficiency
Symptoms Infections:
Symptoms P. Carinii pneumonia;
Age 0.83
Sex XY
Ethnic origin Caucasoid
Relative Parents are second degree cousins
Total lymphoc 8
IgA normal
IgG 0.63
IgM normal
CD4 37-40
Lymphocytes Mitogens: absent
Lymphocytes Anti-CD3: 425
//
ID #K504X539(1),#K504X539(1); standard; MUTATION; TK,TK
Accession Z0004
Systematic name Allele 1 and 2: g.25217_25229delAAGTGGTACGCAC,
Systematic name c.1510_1522delAAGTGGTACGCAC, r.1510_1522delaagugguacgcac,
Systematic name p.Lys504fsX36
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the TK domain
Date 13-Apr-1999 (Rel. 1, Created)
Date 14-Aug-2006 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 8202712
RefAuthors Elder, M. E., Lin, D., Clever, J., Chan, A. C., Hope, T.
RefAuthors J., Weiss, A., Parslow, T. G.
RefTitle Human severe combined immunodeficiency due to a defect in
RefTitle ZAP-70, a T cell tyrosine kinase.
RefLoc Science 264:1596-1599 (1994)
RefNumber [2]
RefCrossRef PUBMED; 7671314
RefAuthors Elder, M. E., Hope, T. J., Parslow, T. G., Umetsu, D. T.,
RefAuthors Wara, D. W., Cowan, M. J.
RefTitle Severe combined immunodeficiency with absence of
RefTitle peripheral blood CD8+ T cells due to ZAP-70 deficiency.
RefLoc Cell Immunol 165:110-117 (1995)
RefNumber [3]
RefCrossRef PUBMED; 8726223
RefAuthors Elder, M. E.
RefTitle Severe combined immunodeficiency due to a defect in the
RefTitle tyrosine kinase ZAP-70.
RefLoc Pediatr Res 39:743-748 (1996)
RefNumber [4]
RefCrossRef PUBMED; 9245543
RefAuthors Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R.,
RefAuthors Kubo, R., Hayward, A., Gelfand, E. W.
RefTitle Phenotypic features of selective T cell deficiency
RefTitle characterized by absence of CD8+ T lymphocytes and
RefTitle undetectable mRNA for ZAP-70 kinase.
RefLoc Clin Immunol Immunopathol 84:129-138 (1997)
DB CrossRef OMIM; 176947.0004
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0057: 25217..25229
Feature /change: -aagtggtacg cac
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0057: 1719..1731
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 504..508
Feature /change: KWYAP
Feature /change: -> PNASTSASSP AAAMSGAMGS PCGRPCPTAR SPTRRX
Feature /domain: TK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0057: 25217..25229
Feature /change: -aagtggtacg cac
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0057: 1719..1731
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 504..508
Feature /change: KWYAP
Feature /change: -> PNASTSASSP AAAMSGAMGS PCGRPCPTAR SPTRRX
Feature /domain: TK
Diagnosis T-B- severe combined immunodeficiency
Symptoms Failure to thrive;
Age 1
Sex XX
Ethnic origin Caucasoid; USA
Relative Parents are first cousins
Total lymphoc 10-20
CD4 75
CD8 0-2
CD19 20
IgA 1.3
IgG 2.7
IgM 6.2
Lymphocytes Mitogens: 0
Lymphocytes Soluble antigen: 101
Lymphocytes Anti-CD3: 102
//
ID #K504X539(2),#K504X539(2); standard; MUTATION; TK,TK
Accession Z0011
Systematic name Allele 1 and 2: g.25217_25229delAAGTGGTACGCAC,
Systematic name c.1510_1522delAAGTGGTACGCAC, r.1510_1522delaagugguacgcac,
Systematic name p.Lys504fsX36
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the TK domain
Date 28-Feb-2003 (Rel. 1, Created)
Date 14-Aug-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11034358
RefAuthors Meinl, E., Lengenfelder, D., Blank, N., Pirzer, R.,
RefAuthors Barata, L., Hivroz, C.
RefTitle Differential requirement of ZAP-70 for CD2-mediated
RefTitle activation pathways of mature human T cells.
RefLoc J Immunol 165:3578-3583 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0057: 25217..25229
Feature /change: -aagtggtacg cac
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0057: 1719..1731
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 504..508
Feature /change: KWYAP
Feature /change: -> PNASTSASSP AAAMSGAMGS PCGRPCPTAR SPTRRX
Feature /domain: TK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0057: 25217..25229
Feature /change: -aagtggtacg cac
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0057: 1719..1731
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 504..508
Feature /change: KWYAP
Feature /change: -> PNASTSASSP AAAMSGAMGS PCGRPCPTAR SPTRRX
Feature /domain: TK
Diagnosis T-B- severe combined immunodeficiency
Symptoms Infections:
Symptoms P. Carinii pneumonia; Severe or disseminated varicella;
Age 0.58
Total lymphoc 15-20
CD3 1
//
ID A507V(1a),A507V(1a); standard; MUTATION; TK,TK
Accession Z0007
Systematic name Allele 1 and 2: g.25227C>T, c.1520C>T, r.1520c>u,
Systematic name p.Ala507Val
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description an amino acid change in the TK domain
Date 24-Oct-2000 (Rel. 1, Created)
Date 14-Aug-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10574909
RefAuthors Matsuda, S., Suzuki-Fujimoto, T., Minowa, A., Ueno, H.,
RefAuthors Katamura, K., Koyasu, S.
RefTitle Temperature-sensitive ZAP70 mutants degrading through a
RefTitle proteasome-independent pathway. restoration of a kinase
RefTitle domain mutant by cdc37.
RefLoc J Biol Chem 274:34515-34518 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25227
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1729
Feature /codon: gca -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 507
Feature /change: A -> V
Feature /domain: TK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25227
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1729
Feature /codon: gca -> gta; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 507
Feature /change: A -> V
Feature /domain: TK
Diagnosis T-B- severe combined immunodeficiency
Relative ZAP70; Z0008 sibling
Relative Parents are consanguineous
//
ID A507V(1b),A507V(1b); standard; MUTATION; TK,TK
Accession Z0008
Systematic name Allele 1 and 2: g.25227C>T, c.1520C>T, r.1520c>u,
Systematic name p.Ala507Val
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description an amino acid change in the TK domain
Date 24-Oct-2000 (Rel. 1, Created)
Date 14-Aug-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10574909
RefAuthors Matsuda, S., Suzuki-Fujimoto, T., Minowa, A., Ueno, H.,
RefAuthors Katamura, K., Koyasu, S.
RefTitle Temperature-sensitive ZAP70 mutants degrading through a
RefTitle proteasome-independent pathway. restoration of a kinase
RefTitle domain mutant by cdc37.
RefLoc J Biol Chem 274:34515-34518 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25227
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1729
Feature /codon: gca -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 507
Feature /change: A -> V
Feature /domain: TK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25227
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1729
Feature /codon: gca -> gta; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 507
Feature /change: A -> V
Feature /domain: TK
Diagnosis T-B- severe combined immunodeficiency
Relative ZAP70; Z0007 sibling
Relative Parents are consanguineous
//
ID A507V(2a),A507V(2a); standard; MUTATION; TK,TK
Accession Z0013
Systematic name Allele 1 and 2: g.25227C>T, c.1520C>T, r.1520c>u,
Systematic name p.Ala507Val
Original code Patient 1
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description an amino acid change in the TK domain
Date 03-Mar-2003 (Rel. 1, Created)
Date 14-Aug-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10748099
RefAuthors Noraz, N., Schwarz, K., Steinberg, M., Dardalhon, V.,
RefAuthors Rebouissou, C., Hipskind, R., Friedrich, W., Yssel, H.,
RefAuthors Bacon, K., Taylor, N.
RefTitle Alternative antigen receptor (TCR) signaling in T cells
RefTitle derived from ZAP-70-deficient patients expressing high
RefTitle levels of syk.
RefLoc J Biol Chem 275:15832-15838 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25227
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1729
Feature /codon: gca -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 507
Feature /change: A -> V
Feature /domain: TK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25227
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1729
Feature /codon: gca -> gta; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 507
Feature /change: A -> V
Feature /domain: TK
Diagnosis T-B- severe combined immunodeficiency
Relative ZAP70base; Z0014 sibling
//
ID A507V(2b),A507V(2b); standard; MUTATION; TK,TK
Accession Z0014
Systematic name Allele 1 and 2: g.25227C>T, c.1520C>T, r.1520c>u,
Systematic name p.Ala507Val
Original code Patient 2
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description an amino acid change in the TK domain
Date 03-Mar-2003 (Rel. 1, Created)
Date 14-Aug-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10748099
RefAuthors Noraz, N., Schwarz, K., Steinberg, M., Dardalhon, V.,
RefAuthors Rebouissou, C., Hipskind, R., Friedrich, W., Yssel, H.,
RefAuthors Bacon, K., Taylor, N.
RefTitle Alternative antigen receptor (TCR) signaling in T cells
RefTitle derived from ZAP-70-deficient patients expressing high
RefTitle levels of syk.
RefLoc J Biol Chem 275:15832-15838 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25227
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1729
Feature /codon: gca -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 507
Feature /change: A -> V
Feature /domain: TK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25227
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1729
Feature /codon: gca -> gta; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 507
Feature /change: A -> V
Feature /domain: TK
Diagnosis T-B- severe combined immunodeficiency
Relative ZAP70base; Z0013 sibling
//
ID A507V(3),A507V(3); standard; MUTATION; TK,TK
Accession Z0015
Systematic name Allele 1 and 2: g.25227C>T, c.1520C>T, r.1520c>u,
Systematic name p.Ala507Val
Original code P.1
Description Allele 1 and 2: A point mutation in the exon 12 leading to
Description an amino acid change in the TK domain
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18509675
RefAuthors Turul, T., Tezcan, I., Artac, H., de Bruin-Versteeg, S.,
RefAuthors Barendregt, B. H., Reisli, I., Sanal, O., van Dongen, J.
RefAuthors J., van der Burg, M.
RefTitle Clinical heterogeneity can hamper the diagnosis of
RefTitle patients with ZAP70 deficiency.
RefLoc Eur J Pediatr:87-93 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25227
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057; GI:1177044; ZAP70C: 1729
Feature /codon: gca -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: ZAP70_HUMAN: 507
Feature /change: A -> V
Feature /domain: TK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25227
Feature /change: c -> t
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0057; GI:1177044; ZAP70C: 1729
Feature /codon: gca -> gta; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: ZAP70_HUMAN: 507
Feature /change: A -> V
Feature /domain: TK
Diagnosis T-B- severe combined immunodeficiency
Symptoms Recurrent lower respiratory tract infections;
Age 5 mo
Sex XX
Ethnic origin Turkey
IgA 118 mg/dl
IgG 203 mg/dl
IgM 49 mg/dl
Comment Patient's male sibling died of LRTI at age 3 months.
//
ID S518R(1a),Intron 12(3a); standard; MUTATION; TK,TK
Accession Z0005
Systematic name Allele 1: g.25261C>A, c.1554C>A, r.1554c>a, p.Ser518Arg
Systematic name Allele 2: g.IVS12-11G>A, c.1624-11G>A,
Systematic name r.1624-9_1624-1ins, p.K541_K542insLEQ
Description Allele 1: A point mutation in the exon 12 leading to an
Description amino acid change in the TK domain
Description Allele 2: point mutation creates a new cryptic donor
Description splice site in the intron 12 leading to inframe insertion
Description of three amino acids in TK domain
Date 14-Apr-1999 (Rel. 1, Created)
Date 14-Aug-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8202713
RefAuthors Chan, A. C., Kadlecek, T. A., Elder, M. E., Filipovich, A.
RefAuthors H., Kuo, W. L., Iwashima, M., Parslow, T. G., Weiss, A.
RefTitle ZAP-70 deficiency in an autosomal recessive form of severe
RefTitle combined immunodeficiency.
RefLoc Science 264:1599-1601 (1994)
RefNumber [2]
RefCrossRef PUBMED; 9245543
RefAuthors Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R.,
RefAuthors Kubo, R., Hayward, A., Gelfand, E. W.
RefTitle Phenotypic features of selective T cell deficiency
RefTitle characterized by absence of CD8+ T lymphocytes and
RefTitle undetectable mRNA for ZAP-70 kinase.
RefLoc Clin Immunol Immunopathol 84:129-138 (1997)
DB CrossRef OMIM; 176947.0002
DB CrossRef OMIM; 176947.0003
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25261
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1763
Feature /codon: agc -> aga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 518
Feature /change: S -> R
Feature /domain: TK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25417
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0057: 1833
Feature /change: +cttgagcag
Feature /inexloc: -11
Feature aa; 6
Feature /rnalink: 5
Feature /name: insertion; inframe
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 542
Feature /change: +LEQ
Feature /domain: PK
Diagnosis T-B- severe combined immunodeficiency
Sex XY
Relative ZAP70; Z0009 brother
Relative ZAP70; Z0010 sister
//
ID S518R(1b),Intron 12(3b); standard; MUTATION; TK,TK
Accession Z0009
Systematic name Allele 1: g.25261C>A, c.1554C>A, r.1554c>a, p.Ser518Arg
Systematic name Allele 2: g.IVS12-11G>A, c.1624-11G>A,
Systematic name r.1624-9_1624-1ins, p.K541_K542insLEQ
Description Allele 1: A point mutation in the exon 12 leading to an
Description amino acid change in the TK domain
Description Allele 2: point mutation creates a new cryptic donor
Description splice site in the intron 12 leading to inframe insertion
Description of three amino acids in TK domain
Date 14-Apr-1999 (Rel. 1, Created)
Date 14-Aug-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8202713
RefAuthors Chan, A. C., Kadlecek, T. A., Elder, M. E., Filipovich, A.
RefAuthors H., Kuo, W. L., Iwashima, M., Parslow, T. G., Weiss, A.
RefTitle ZAP-70 deficiency in an autosomal recessive form of severe
RefTitle combined immunodeficiency.
RefLoc Science 264:1599-1601 (1994)
RefNumber [2]
RefCrossRef PUBMED; 9245543
RefAuthors Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R.,
RefAuthors Kubo, R., Hayward, A., Gelfand, E. W.
RefTitle Phenotypic features of selective T cell deficiency
RefTitle characterized by absence of CD8+ T lymphocytes and
RefTitle undetectable mRNA for ZAP-70 kinase.
RefLoc Clin Immunol Immunopathol 84:129-138 (1997)
DB CrossRef OMIM; 176947.0002
DB CrossRef OMIM; 176947.0003
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25261
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1763
Feature /codon: agc -> aga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 518
Feature /change: S -> R
Feature /domain: TK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25417
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0057: 1833
Feature /change: +cttgagcag
Feature /inexloc: -11
Feature aa; 6
Feature /rnalink: 5
Feature /name: insertion; inframe
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 542
Feature /change: +LEQ
Feature /domain: PK
Diagnosis T-B- severe combined immunodeficiency
Sex XY
Relative ZAP70; Z0005 brother
Relative ZAP70; Z0010 sister
//
ID S518R(1c),Intron 12(3c); standard; MUTATION; TK,TK
Accession Z0010
Systematic name Allele 1: g.25261C>A, c.1554C>A, r.1554c>a, p.Ser518Arg
Systematic name Allele 2: g.IVS12-11G>A, c.1624-11G>A,
Systematic name r.1624-9_1624-1ins, p.K541_K542insLEQ
Description Allele 1: A point mutation in the exon 12 leading to an
Description amino acid change in the TK domain
Description Allele 2: point mutation creates a new cryptic splice
Description acceptor site in the intron 12 leading to inframe
Description insertion of three amino acids in TK domain
Date 14-Apr-1999 (Rel. 1, Created)
Date 14-Aug-2006 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8202713
RefAuthors Chan, A. C., Kadlecek, T. A., Elder, M. E., Filipovich, A.
RefAuthors H., Kuo, W. L., Iwashima, M., Parslow, T. G., Weiss, A.
RefTitle ZAP-70 deficiency in an autosomal recessive form of severe
RefTitle combined immunodeficiency.
RefLoc Science 264:1599-1601 (1994)
RefNumber [2]
RefCrossRef PUBMED; 9245543
RefAuthors Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R.,
RefAuthors Kubo, R., Hayward, A., Gelfand, E. W.
RefTitle Phenotypic features of selective T cell deficiency
RefTitle characterized by absence of CD8+ T lymphocytes and
RefTitle undetectable mRNA for ZAP-70 kinase.
RefLoc Clin Immunol Immunopathol 84:129-138 (1997)
DB CrossRef OMIM; 176947.0002
DB CrossRef OMIM; 176947.0003
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25261
Feature /change: c -> a
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057: 1763
Feature /codon: agc -> aga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 518
Feature /change: S -> R
Feature /domain: TK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25417
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0057: 1833
Feature /change: +cttgagcag
Feature /inexloc: -11
Feature aa; 6
Feature /rnalink: 5
Feature /name: insertion; inframe
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 542
Feature /change: +LEQ
Feature /domain: PK
Diagnosis T-B- severe combined immunodeficiency
Sex XX
Relative ZAP70; Z0005 brother
Relative ZAP70; Z0009 brother
//
ID C564R(1),C564R(1); standard; MUTATION; TK,TK
Accession Z0017
Systematic name Allele 1 and 2: g.25494T>C, c.1690T>C, r.1690u>c,
Systematic name p.Cys564Arg
Original code P.3
Description Allele 1 and 2: A point mutation in the exon 13 leading to
Description an amino acid change in the TK domain
Date 28-Jul-2010 (Rel. 1, Created)
Date 28-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18509675
RefAuthors Turul, T., Tezcan, I., Artac, H., de Bruin-Versteeg, S.,
RefAuthors Barendregt, B. H., Reisli, I., Sanal, O., van Dongen, J.
RefAuthors J., van der Burg, M.
RefTitle Clinical heterogeneity can hamper the diagnosis of
RefTitle patients with ZAP70 deficiency.
RefLoc Eur J Pediatr:87-93 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25494
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0057; GI:1177044; ZAP70C: 1899
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISS-PROT: ZAP70_HUMAN: 564
Feature /change: C -> R
Feature /domain: TK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25494
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0057; GI:1177044; ZAP70C: 1899
Feature /codon: tgt -> cgt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: ZAP70_HUMAN: 564
Feature /change: C -> R
Feature /domain: TK
Diagnosis T-B- severe combined immunodeficiency
Symptoms Recurrent pneumonia; Exfoliative dermatitis;
Symptoms Subcutaneous nodules; Oral moniliasis;
Age 11 mo
Sex XX
Ethnic origin Turkey
IgA 86 mg/dl
IgG 560 mg/dl
IgM 72 mg/dl
//
ID Intron 12(1),Intron 12(1); standard; MUTATION; TK,TK
Accession Z0001
Systematic name Allele 1 and 2: g.IVS12-11G>A, c.1624-11G>A,
Systematic name r.1624-9_1624-1ins, p.K541_K542insLEQ
Original code P1F1
Description Allele 1 and 2: point mutation creates a new cryptic
Description splice acceptor site in the intron 12 leading to inframe
Description insertion of three amino acids in TK domain
Date 12-Apr-1999 (Rel. 1, Created)
Date 14-Aug-2006 (Rel. 1, Last updated, Version 3)
RefNumber [1]
RefCrossRef PUBMED; 8124727
RefAuthors Arpaia, E., Shahar, M., Dadi, H., Cohen, A., Roifman, C.
RefAuthors M.
RefTitle Defective T cell receptor signaling and CD8+ thymic
RefTitle selection in humans lacking zap-70 kinase.
RefLoc Cell 76:947-958 (1994)
RefNumber [2]
RefCrossRef PUBMED; 9245543
RefAuthors Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R.,
RefAuthors Kubo, R., Hayward, A., Gelfand, E. W.
RefTitle Phenotypic features of selective T cell deficiency
RefTitle characterized by absence of CD8+ T lymphocytes and
RefTitle undetectable mRNA for ZAP-70 kinase.
RefLoc Clin Immunol Immunopathol 84:129-138 (1997)
DB CrossRef OMIM; 176947.0001
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25417
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0057: 1833
Feature /change: +cttgagcag
Feature /inexloc: -11
Feature aa; 3
Feature /rnalink: 2
Feature /name: insertion; inframe
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 542
Feature /change: +LEQ
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25417
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0057: 1833
Feature /change: +cttgagcag
Feature /inexloc: -11
Feature aa; 6
Feature /rnalink: 5
Feature /name: insertion; inframe
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 542
Feature /change: +LEQ
Feature /domain: PK
Diagnosis T-B- severe combined immunodeficiency
Sex XX
Total lymphoc 8.0
IgA Normal
IgG Normal
IgM Normal
CD3 55
CD4 47
CD8 8
CD19 10
Lymphocytes Mitogens: 408
Lymphocytes Anti-CD3: 376
//
ID Intron 10(2a),Intron 10(2a); standard; MUTATION; TK,TK
Accession Z0002
Systematic name Allele 1 and 2: g.IVS12-11G>A, c.1624-11G>A,
Systematic name r.1624-9_1624-1ins, p.K541_K542insLEQ
Original code P2F2
Description Allele 1 and 2: point mutation creates a new cryptic
Description splice acceptor site in the intron 12 leading to inframe
Description insertion of three amino acids in TK domain
Date 12-Apr-1999 (Rel. 1, Created)
Date 27-Feb-2003 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8124727
RefAuthors Arpaia, E., Shahar, M., Dadi, H., Cohen, A., Roifman, C.
RefAuthors M.
RefTitle Defective T cell receptor signaling and CD8+ thymic
RefTitle selection in humans lacking zap-70 kinase.
RefLoc Cell 76:947-958 (1994)
RefNumber [2]
RefCrossRef PUBMED; 9245543
RefAuthors Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R.,
RefAuthors Kubo, R., Hayward, A., Gelfand, E. W.
RefTitle Phenotypic features of selective T cell deficiency
RefTitle characterized by absence of CD8+ T lymphocytes and
RefTitle undetectable mRNA for ZAP-70 kinase.
RefLoc Clin Immunol Immunopathol 84:129-138 (1997)
DB CrossRef OMIM; 176947.0001
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25417
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0057: 1833
Feature /change: +cttgagcag
Feature /inexloc: -11
Feature aa; 3
Feature /rnalink: 2
Feature /name: insertion; inframe
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 542
Feature /change: +LEQ
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25417
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0057: 1833
Feature /change: +cttgagcag
Feature /inexloc: -11
Feature aa; 6
Feature /rnalink: 5
Feature /name: insertion; inframe
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 542
Feature /change: +LEQ
Feature /domain: PK
Diagnosis T-B- severe combined immunodeficiency
Sex XX
Relative ZAP70; Z0003 sister
Total lymphoc 4.3
CD3 58
CD4 57
CD8 0
CD19 16
Lymphocytes Mitogens: 870
Lymphocytes Anti-CD3: 900
//
ID Intron 10(2b),Intron 10(2b); standard; MUTATION; TK,TK
Accession Z0003
Systematic name Allele 1 and 2: g.IVS12-11G>A, c.1624-11G>A,
Systematic name r.1624-9_1624-1ins, p.K541_K542insLEQ
Original code P3F2
Description Allele 1 and 2: point mutation creates a new cryptic
Description splice acceptor site in the intron 12 leading to inframe
Description insertion of three amino acids in TK domain
Date 12-Apr-1999 (Rel. 1, Created)
Date 27-Feb-2003 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 8124727
RefAuthors Arpaia, E., Shahar, M., Dadi, H., Cohen, A., Roifman, C.
RefAuthors M.
RefTitle Defective T cell receptor signaling and CD8+ thymic
RefTitle selection in humans lacking zap-70 kinase.
RefLoc Cell 76:947-958 (1994)
RefNumber [2]
RefCrossRef PUBMED; 9245543
RefAuthors Mazer, B., Harbeck, R. J., Franklin, R., Schwinzer, R.,
RefAuthors Kubo, R., Hayward, A., Gelfand, E. W.
RefTitle Phenotypic features of selective T cell deficiency
RefTitle characterized by absence of CD8+ T lymphocytes and
RefTitle undetectable mRNA for ZAP-70 kinase.
RefLoc Clin Immunol Immunopathol 84:129-138 (1997)
DB CrossRef OMIM; 176947.0001
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25417
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0057: 1833
Feature /change: +cttgagcag
Feature /inexloc: -11
Feature aa; 3
Feature /rnalink: 2
Feature /name: insertion; inframe
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 542
Feature /change: +LEQ
Feature /domain: PK
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0057: 25417
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe insertion
Feature /loc: IDRefSeq: C0057: 1833
Feature /change: +cttgagcag
Feature /inexloc: -11
Feature aa; 6
Feature /rnalink: 5
Feature /name: insertion; inframe
Feature /loc: UniProt: P43403; ZAP70_HUMAN: 542
Feature /change: +LEQ
Feature /domain: PK
Diagnosis T-B- severe combined immunodeficiency
Sex XX
Relative ZAP70; Z0002 sister
Total lymphoc 3.6
CD3 66
CD4 55
CD8 0
//
|
