Fig. 6

variant sequence analysis and clinical examination of the family 14: (A) Pedigree of the family 14: The filled black symbol represents the affected member, and the arrow denotes the proband. (B) The fundus of both eyes: The color of the optic was pale, OCT showed a mild elevation of the ellipsoid zone and interdigitation zone in the macular region of the the right eye. (C) Sequence chromatograms of identified variants. (D) The homology of amino acid sequences between human PRPH2 and other species. The amino acid at positions 214 is highly conserved among species, and the mutated residues 214 is boxed and indicated. (E) Proteomic conservation analysis suggested that the p.C241S variant results in the substitution of a polar, uncharged cysteine at site 241 with a polar, uncharged serine, which leads to alterations in the structure and function of the mutated protein.