Database CASP10base
Version 1.0
File casp10pub.html
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/CASP10base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF109.html
Gene CASP10
Disease Autoimmune lymphoproliferative syndrome type II, (ALPS2)
OMIM 601762
GDB 6053891
Sequence IDRefSeq: D0012; IDRefSeq: C0012; UniProt: Q92851
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID L242F(1),?; standard; MUTATION;
Accession C0001
Systematic name Allele 1: g.25946C>T, c.871C>T, p.L242F
Original code PT11
Description Allele 1: point mutation in the exon 6 leading to an
Description amino acid change
Date 30-Jun-2003 (Rel. 1, Created)
Date 30-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10412980
RefAuthors Wang, J., Zheng, L., Lobito, A., Chan, F. K., Dale, J.,
RefAuthors Sneller, M., Yao, X., Puck, J. M., Straus, S. E., Lenardo,
RefAuthors M. J.
RefTitle Inherited human caspase 10 mutations underlie defective
RefTitle lymphocyte and dendritic cell apoptosis in autoimmune
RefTitle lymphoproliferative syndrome type II.
RefLoc Cell 98:47-58 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0012: 25946
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0012: 871
Feature /codon: ctc -> ttc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q92851; CASPA_HUMAN: 242
Feature /change: L -> F
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0012: 25946
Feature /change: c -> t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0012: 871
Feature /codon: ctc -> ttc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q92851; CASPA_HUMAN: 242
Feature /change: L -> F
Symptoms Physical findings:
Symptoms Adenopathy; Hepatosplenomegaly; Hemolytic anemia
Sex XX
Ethnic origin African American
Comment The mutation is possibly inherited from her mother in a
Comment heterozygous dominant fashion
//
ID V367I(1),V367I(1); standard; MUTATION;
Accession C0002
Systematic name Allele 1 and 2: g.27207G>A, c.1246G>A, p.V367I
Original code PT36
Description Allele 1 and 2: point mutation in the exon 7 leading to an
Description amino acid change
Date 30-Jun-2003 (Rel. 1, Created)
Date 30-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10412980
RefAuthors Wang, J., Zheng, L., Lobito, A., Chan, F. K., Dale, J.,
RefAuthors Sneller, M., Yao, X., Puck, J. M., Straus, S. E., Lenardo,
RefAuthors M. J.
RefTitle Inherited human caspase 10 mutations underlie defective
RefTitle lymphocyte and dendritic cell apoptosis in autoimmune
RefTitle lymphoproliferative syndrome type II.
RefLoc Cell 98:47-58 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0012: 27207
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0012: 1246
Feature /codon: gta -> ata; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q92851; CASPA_HUMAN: 367
Feature /change: V -> I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0012: 27207
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0012: 1246
Feature /codon: gta -> ata; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q92851; CASPA_HUMAN: 367
Feature /change: V -> I
Symptoms Physical findings:
Symptoms Adenopathy; Splenomegaly; Hemolytic anemia
Symptoms Others:
Symptoms prolonged fever, elevated sedimentation rate,
Symptoms reticulocytosis, noninfectious lymphocytic meningitis
Symptoms followed by optic neuritis indicating a pattern of
Symptoms disparate inflammatory conditions
Sex XY
Ethnic origin Aschenazi Jewish
//
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