Database CASP8base
Version 1.0
File casp8pub.txt
Date 20-Jun-2007
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/CASP8base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF66.html
Gene CASP8
Disease Caspase 8 deficiency
OMIM 601763
GDB 4590254
Sequence IDRefSeq:D0013; IDRefSeq:C0013; UniProt:Q14790
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R248W(1a),R248W(1a); standard; MUTATION;
Accession C0001
Systematic name Allele 1 and 2: g.19791C>T, c.1033C>T, p.R248W
Original code Patient 1
Description Allele 1 and 2: point mutation in the exon 7 leading to an
Description amino acid change
Date 29-Apr-2003 (Rel. 1, Created)
Date 29-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12353035
RefAuthors Chun, H. J., Zheng, L., Ahmad, M., Wang, J., Speirs, C.
RefAuthors K., Siegel, R. M., Dale, J. K., Puck, J., Davis, J., Hall,
RefAuthors C. G., Skoda-Smith, S., Atkinson, T. P., Straus, S. E.,
RefAuthors Lenardo, M. J.
RefTitle Pleiotropic defects in lymphocyte activation caused by
RefTitle caspase-8 mutations lead to human immunodeficiency.
RefLoc Nature 419:395-399 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0013: 19791
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0013: 1033
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q14790; CASP8_HUMAN: 248
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0013: 19791
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0013: 1033
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q14790; CASP8_HUMAN: 248
Feature /change: R -> W
Diagnosis Caspase 8 deficiency
Symptoms Infections:
Symptoms Reactive airway disease; HSV labialis; Pneumonia; Asthma;
Symptoms Failure to thrive/short stature;
Symptoms Physical findings:
Symptoms Lymphoadenopathy; Splenomegaly; Eczema;
Age 12
Sex XX
Relative CASP8base; C0002 brother
Total lymphoc 1,510
B cells 361
IgA 112
IgE 7
IgG 52
IgM 52
CD4 23.1
CD8 49.6
Comment -!-Parents consanguineous
//
ID R248W(1b),R248W(1b); standard; MUTATION;
Accession C0002
Systematic name Allele 1 and 2: g.19791C>T, c.1033C>T, p.R248W
Original code Patient 2
Description Allele 1 and 2: point mutation in the exon 7 leading to an
Description amino acid change
Date 29-Apr-2003 (Rel. 1, Created)
Date 29-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12353035
RefAuthors Chun, H. J., Zheng, L., Ahmad, M., Wang, J., Speirs, C.
RefAuthors K., Siegel, R. M., Dale, J. K., Puck, J., Davis, J., Hall,
RefAuthors C. G., Skoda-Smith, S., Atkinson, T. P., Straus, S. E.,
RefAuthors Lenardo, M. J.
RefTitle Pleiotropic defects in lymphocyte activation caused by
RefTitle caspase-8 mutations lead to human immunodeficiency.
RefLoc Nature 419:395-399 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0013: 19791
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0013: 1033
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q14790; CASP8_HUMAN: 248
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0013: 19791
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0013: 1033
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q14790; CASP8_HUMAN: 248
Feature /change: R -> W
Diagnosis Caspase 8 deficiency
Symptoms Infections:
Symptoms Reactive airway disease; HSV labialis; Pneumonia; Asthma;
Symptoms Chronic diarrhoea;
Symptoms Failure to thrive/short stature;
Symptoms Physical findings:
Symptoms Lymphoadenopathy; Splenomegaly; Eczema;
Age 11
Sex XY
Relative CASP8base; C0001 sister
Total lymphoc 2,362
B cells 570
IgA 56
IgE 20
IgG 544
IgM 32
CD4 25.0
CD8 46.2
Comment -!-Parents consanguineous
//
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