Fig. 3

variant sequence analysis and clinical examination of the family 8: (A) Pedigree of the family 8: 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 waxy yellow, the retinal vessels were attenuated, and bone spicule-like pigment deposits were visible on the peripheral retina, OCT showed mild thinning of the macular region. (C) ERG: Significant impairment of cone and rod cell function in both eyes. (D) Sequence chromatograms of identified variants. (E) Proteomic conservation analysis suggested that the p.G455R variant results in the substitution of a nonpolar, uncharged glycine at site 455 with a nonpolar, positively charged arginine, which leads to alterations to the structure and function of the protein after the variant. (F) The homology of amino acid sequences between human PROM1 and other species, the amino acid at positions 455 is highly conserved among species, and the mutated residues 455 is boxed and indicated.