Figure 2.

Location of AIRE mutations detected in Indian APS1 probands. The location of mutations observed in 19 probands is shown in relation to the functional domains of the AIRE protein. All mutations were homozygous except for compound heterozygous mutation (p.M1V/p. R92W) in 3 members of one family. The mutation p.C322fs372X (7 probands) was the most frequent, followed by p.V80G (3 probands) and p.M1V (2 probands). All other mutations were identified in only a single proband. CARD: caspase activation and recruitment domain; NLS: nuclear localization signal; SAND: Sp100, AIRE, NucP41/75, DEAF-1 DNA-binding domain; PHD: plant homeodomain zinc finger; L: LXXLL nuclear receptor interaction motif.