Figure 1. Mutation analysis of CRYAA in Family 4. A: Pedigree of Family 4 shows the proband, which is indicated by the arrow. B: Direct sequencing of the PCR product encompasses exon 1 of CRYAA (5′→3′) of an unaffected individual (I-1). C: Direct sequencing of the PCR product encompassing exon 1 of CRYAA of an affected individual (II-1) shows a heterozygous C→T transition that replaced arginine by cysteine at amino acid 12 (R12C). The mutated sequence is shown in red. D: The slit-lamp photograph of individual I-2 shows a nuclear cataract. E: Alignment of residues 1–60 of human (8) αA-crystallin protein with rat (1), hamster (2), mouse (3), guinea pig (4), cow (5), sheep (6), pig (7) is shown. The R12 residue is marked in red.