Figure 3 of Yao, Mol Vis 2011; 17:144-152.


Figure 3. The CRYBB2 mutation cosegregates with the disease in the family. A: Restriction fragment length analysis (RFLP) showing the loss of the HaeIII restriction site in heterozygous individuals with the A2V mutation (185 bp) but it was present in unaffected individuals (121 bp and 64 bp). B: Multiple-sequence alignment in CRYBB2 from different species reveals that codon 2, where the mutation (p. A2V) occurred, is highly conserved (highlighted in red).