Figure 2. Novel missense mutation is identified in CRYAB. A: The sequence chromatogram shows the missense mutation, c.166C <T. B: The schematic diagram displays the genomic structure of CRYAB, and the position of the mutation identified in exon 1 is indicated by the black arrow. C: The resulting substitution occurs in a highly conserved amino acid residue, R56W, as shown in this cross-species alignment of amino acids.