Mutation c.251C > A (p.Ala84Asp) located within exon 3, results in changes of a non-polar alanine to a charged aspartic acid at position 84, it was predicted by Polyphen2 to be probably damaging with a score of 0.989 (sensitivity: 0.72, specificity: 0.97). The Mutation was also predicted to be damaging by SIFT with a score of 0. As shown in Fig. 1C, this amino acid change affects highly conserved residues.