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.