Figure 2 of Santana, Mol Vis 2009; 15:793-800.


Figure 2. Mutation analysis of CRYGD in Family 10. A: Pedigree of Family 10 shows the proband, which is indicated by the arrow. B: Direct sequencing of the PCR product encompasses exon 2 of CRYGD of an unaffected individual (I-2). C: Direct sequencing of the PCR product encompassing exon 2 of CRYGD shows a heterozygous TAC>TAG transition that replaced a tyrosine by a premature stop codon at amino acid 56 (Y56X) in individual II-1. D: The photograph of the anterior eye with lens image of individual II-1 shows nuclear cataract. E: Multiple alignment of amino acid sequence of γD-crystallin protein with different species is shown: mouse (1), rat (2), human (3), cow (4), and kangaroo (5). The Y56 residue is marked in red.