Gene: autoimmune regulator; AIRE


Gene Symbol: AIRE
OMIM: 607358
Chromosome location: 21q22.3

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Autoimmune polyendocrinopathy syndrome , type I || c.232T>A

Phenotype:    Autoimmune polyendocrinopathy syndrome , type I
Dna Change:    c.232T>A
Protein Change:    p.Trp78Arg (W78R)
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 2
Transcript:    NM_000383.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNAthe Salento peninsula in Puglia6 families/8 unrelated familiesNAMeloni A et al., 2002Meloni A, Perniola R, Faà V, Corvaglia E, Cao A, Rosatelli MC, . Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.. J. Clin. Endocrinol. Metab.. 2002; 87(2):841-6

References

Meloni A, Perniola R, Faà V, Corvaglia E, Cao A, Rosatelli MC, Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.J. Clin. Endocrinol. Metab.. 2002; 87(2):841-6