The three causative variants of the POC5 gene (p.A429V, p.A446T, and p.A455P) were found in exon 10, and all three corresponded to the substitution of an alanine to another amino acid, suggesting that the alanine in exon 10 of POC5 could play an important role in the pathogenesis of AIS. This evidence concerns the gene POC5 and androgen insensitivity syndrome.