Figure 3. Mutational analysis of CRYGC. A: Sequence chromatograms of the wild type CRYGC allele show that the wild type gene encodes a tryptophan residue (TGG) at position 157. B: Sequence chromatograms of the mutant allele show a c.470G>A transversion that substituted a termination codon (TAG) for the tryptophan residue at position 157 (W157X). C: Exon organization and mutational profile of CRYGC are shown. Codons and the corresponding Greek key motifs are numbered above each exon. The relative locations of the W157X mutation and three other mutations associated with cataracts in humans are indicated. Mutations are numbered according to their amino acid position in the processed CRYGC protein. D: Multiple sequence alignments of CRYGC with the corresponding segments in human, mouse, and rat is exhibited together with human CRYGA, CRYGB, and CRYGD (sequences found using ClustalW2). The arrow indicates the W157X mutated position.