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
//