AIRE

Autoimmune regulator
Diseases associated with this gene: APS1
LOVD Gene: AIRE
NCBI Gene: AIRE
Gene Home Reference: AIRE
Ensembl gene: ENSG00000160224
Ensembl location: ENSG00000160224

OMIM gene: 607358
Curator: Anne Polvi
Download Finnish AIRE variants in tab-separated format.

 Finnish Variants

Filtered from source LSDB
ExonDNA change (HGVS format)Published as (optional)RNA change (HGVS format)Protein change (HGVS format) (Mutalyzer)Genomic DNA change (HGVS format) hg19dbSNPRemarks (optional)Reference (optional)
02c.247A>GAAG>GAG: Lys83Glur.(247a>g)p.(Lys83Glu)g.45706554A>G rs121434255 2 Finnish APECED patients (com-het)Nagamine et al. 1997
06c.769C>TArg257stop; 889G>Ar.(769c>u)p.(Arg257*)g.45709656C>TFinnish Major APECED mutation: >80% of Finnish APECED patients. Also seen in American, British, Dutch, German, Italian, Swiss and Swedish APECED patients.Nagamine et al. 1997, Finnish-German APECED Consortium 1997, Wang et al. 1998, Pearce et al. 1998, Björses et al. 2000
08c.932G>A1052G>A: Cys311Tyrr.(932g>a)p.(Cys311Tyr)g.45711030G>A1 Finnish APECED patient (com-het)Björses et al. 2000
08c.967_979del1085-1097del:FS, truncated 372 aa proteinr.(967_979del)p.(Leu323Serfs*51)g.45711065_45711077delFound in Finnish (2; com-het), Dutch, German, British, Canadian, Italian, American and Swedish APECED patientsFinnish-German APECED Consortium 1997, Wang et al. 1998, Björses et al. 2000
08c.977C>A1094C>A: Pro326Glnr.(977c>a)p.(Pro326Gln)g.45711075C>Ars1793638851 Finnish APECED patient (hom)Björses et al. 2000
10c.1163_1164insA1284insA: FS and truncated 478 aa proteinr.(1163_1164insa)p.(Met388Ilefs*36)g.45712943_45712944insA2 Finnish APECED patients (com-het)Finnish-German APECED Consortium 1997
14c.1638A>T1758A>T: X546Cys, 60 amino-acids longer proteinr.(1638a>u)p.(*546Cysext*60)g.45717610A>TMore than 3 Finnish APECED patientsHamish et al. 1998, Björses et al. 2000

 Databases for Finnish and non-Finnish AIRE variants


  Autoimmune regulator (AIRE)

  • Curator: Roberto Perniola


    AIREbase
  • Curator: Mauno Vihinen


    Resource of Asian Primary Immunodeficiency Diseases - AIRE mutations





  • FinDis has received funding from the Academy of Finland, Center of Excellence in Disease Genetics
    and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.