Fig. 1.
Segregation of mutations in the RDH5 gene in a family and position of missense mutations. (A) Identification of a missense mutation (CGG→TGG) in exon 3 at codon 157 (Arg157Trp). (B) Exon-intron organization of the RDH5 gene. Orange boxes cover the cofactor binding domain. The active domain is shaded in brown. Mutations in the current and previous work (Yamamoto et al., 1999) are indicated. (C) Amino acid sequence alignment of regions encompassing the mutations in 11-cis-RDH and related proteins. Strictly conserved amino acids are shown in white letters on black background. The conservative substitutions are shown in white letters on gray background. The mutated residues are shaded in yellow and indicated by arrows.