Fig. 3

A novel missense mutation (c.35G > T; p.R12L) in CRYAA in a Chinese family with cataracts and microphthalmia. DNA sequences of CRYAA in affected and unaffected individuals. A heterozygous variant c.35G > T was identified in exon 1 of CRYAA. The upper chromatogram of the DNA sequence from the affected proband (IV: 1) shows both G and T (K) at position 35; thus, the nucleotide variant resulted in the substitution of an arginine for a leucine at codon 12 (p.R12L). The lower sequence chromatogram from an unaffected individual (II: 1) shows only the wild-type CRYAA allele