Database FASLGbase
Version 1.0
File faslgpub.html
Date 15-Jun-2007
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics, University of Tampere,
Address FIN-33014 Tampere, Finland
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/FASLGbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF37.html
Gene FASLG
Disease Autoimmune lymphoproliferative syndrome, type 1B (ALPS1B)
OMIM 134638
GDB 132671
Sequence IDRefSeq:D0090; IDRefSeq:C0090; UniProt:P48023
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments previously known as TNFSF6base
Comments sequence entry reference in every entry;
//
ID #M158-0(1),?; standard; MUTATION; EC,EC
Accession T0001
Systematic name Allele 1: g.83392_83475del, c.629_712del,
Systematic name p.M158_T186del
Description Allele 1: deletion in the exon 4 leading to an amino
Description acid change in the EC domain
Date 17-Jun-2003 (Rel. 1, Created)
Date 17-Jun-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8787672
RefAuthors Wu, J., Wilson, J., He, J., Xiang, L., Schur, P. H.,
RefAuthors Mountz, J. D.
RefTitle Fas ligand mutation in a patient with systemic lupus
RefTitle erythematosus and lymphoproliferative disease.
RefLoc J Clin Invest 98:1107-1113 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0090: 83392..83475
Feature /change: -atgcctctgg aatgggaaga cacctatgga attgtcctgc
Feature /change: tttctggagt gaagtataag aagggtggcc ttgtgatcaa
Feature /change: tgaa
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /note: also normal mRNA is detected
Feature /loc: IDRefSeq: C0090: 629..712
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P48023; TNFL6_HUMAN: 158..185
Feature /change:
Feature /change: -MPLEWEDTYG IVLLSGVKYK KGGLVINE
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Physical findings:
Symptoms Systemic lupus erythematosus; Leukopenia;
Symptoms Others:
Symptoms malar rash, arthritis, serositis, renal disease,
Symptoms positive LE cell preparation and anti-DNA antibodies,
Symptoms and a positive antinuclear antibody
Age 52
Sex XY
Ethnic origin African-American
WBC 3,100
//
ID A247E(1),A247E(1); standard; MUTATION; EC,EC
Accession T0002
Systematic name Allele 1 and 2: g.83660C>A, c.740C>A, r.740c>a, p.Ala247Glu
Description Allele 1 and 2: A point mutation in the exon 4 leading to
Description an amino acid change in the EC domain
Date 07-Aug-2006 (Rel. 1, Created)
Date 07-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16627752
RefAuthors Del-Rey, M., Ruiz-Contreras, J., Bosque, A., Calleja, S.,
RefAuthors Gomez-Rial, J., Roldan, E., Morales, P., Serrano, A.,
RefAuthors Anel, A., Paz-Artal, E., Allende, L. M.
RefTitle A homozygous fas ligand gene mutation in a patient causes
RefTitle a new type of autoimmune lymphoproliferative syndrome.
RefLoc Blood 108:1306-1312 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0090: 83660
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0090: 897
Feature /codon: gca -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P48023; TNFL6_HUMAN: 247
Feature /change: A -> E
Feature /domain: EC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0090: 83660
Feature /change: c -> a
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0090: 897
Feature /codon: gca -> gaa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P48023; TNFL6_HUMAN: 247
Feature /change: A -> E
Feature /domain: EC
Symptoms Physical findings:
Symptoms Lymphoadenopathy; Hepatosplenomegaly; Thrombocytopenia;
Symptoms Hemolytic anemia
Symptoms Others:
Symptoms hypergammaglobulinemia, recurrent infections, sepsis
Sex XX
IgA 2.11
IgG 17.6
IgM 0.29
//
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