| 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 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Italy | NA | the Salento peninsula in Puglia | 6 families/8 unrelated families | NA | Meloni 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 |
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