Fig. 2
From: A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV
(a) Amino acid conservativeness analysis. Shown are 75 amino acids surrounding the variant position (marked with a black box) The sequence is highly conserved in several species. The amino acid where the variant c.452 456dup p.F153fs*135 is found is highly conserved and is phenylalanine in all 14 species, according to PolyPhen-2 analysis. (b) Sanger sequencing map of the patient and his father and mother. The patient has the SOX10: c.452_456dup heterozygous variant. Both the patient’s father and mother have no variant at this location. (c) Secondary structure of sox10 (p.F153fs*135), and arrow indicated variant position