AIREbase sample

Database        AIREbase
Version         1.2
File            airepub.html
Date            21-Aug-2008
Curator         Mauno Vihinen
Address         Institute of Medical Technology 
Address         FI-33014 University of Tampere, Finland
Phone           +358-3-3551 7735
Fax             +358-3-3551 7710
Email           Mauno.Vihinen ----removed--- uta.fi
URL             http://www.uta.fi/imt/bioinfo/AIREbase/
FTP             ftp://protein.uta.fi/pub/airepub.dat
IDR factfile    http://bioinf.uta.fi/xml/idr/ff/FF72.xml
Gene            AIRE
Disease         autoimmune polyglandular syndrome type 1
OMIM            240300
GDB             567198
Sequence        IDRefSeq:D0003; IDRefSeq:C0003; UniProt:O43918;
Numbering       start of the entry
Funding         Tampere University Hospital Medical Research Fund
Funding         European Union
Comments        sequence entry reference in every entry
//
ID              M1L(1a),R257X(71a); standard; MUTATION; HSR,SAND
Accession       A0176
Systematic name Allele 1: g.4707A>T, c.1A>T, r.1a>u, p.Met1Leu
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code   Patient 11
Description     Allele 1: A point mutation in the exon 1 altering
Description     initiation codon in HSR domain
Description     Allele 2: A point mutation in the exon 6 leading to a
Description     premature stop codon in the HSR domain
Date            02-Oct-2006 (Rel. 1, Created)
Date            02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber       [1]
RefCrossRef     PUBMED; 16965330
RefAuthors      Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A., 
RefAuthors      Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A., 
RefAuthors      Gremida, M., Krajewski, P., Ploski, R.
RefTitle        Molecular background of polyendocrinopathy-candidiasis-
RefTitle        ectodermal dystrophy syndrome in a polish population: 
RefTitle        novel AIRE mutations and an estimate of disease 
RefTitle        prevalence.
RefLoc          Clin Genet:348-354 (2006)
FeatureHeader   allele; 1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 4707
Feature           /change: a -> t
Feature           /genomic_region: exon; 1
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: initiation codon
Feature           /loc: IDRefSeq: C0003: 128
Feature           /codon: atg -> ttg; 1
Feature           /note: predicted to change start codon to position c.268,
Feature           /note: resulting in a frameshift of translation
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 1
Feature           /change: M -> L
Feature           /domain: HSR
FeatureHeader   allele; 2
Feature         dna; 4
Feature           /rnalink: 5
Feature           /name: point
Feature           /loc: IDRefSeq: D0003: 8473
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 6
Feature         rna; 5
Feature           /dnalink: 4
Feature           /aalink: 6
Feature           /name: nonsense
Feature           /loc: IDRefSeq: C0003: 896
Feature           /codon: cga -> tga; 1
Feature         aa; 6
Feature           /rnalink: 5
Feature           /name: out of frame translation; premature termination
Feature           /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature           /change: R -> X
Feature           /domain: SAND
Diagnosis       Autoimmune polyglandular syndrome type 1
Sex             XX
Ethnic origin   Caucasoid; Poland
Relative        AIREbase; A0177 sister
Symptoms        Clinical characteristics of patients
Symptoms           Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms           candidiasis; Malabsorption; Chronic active hepatitis;