Fig. 2From: Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsiaMutations identified in two families. a Multiple sequence alignment of CNGA3 polypeptides of different species showing the conserved amino acid residues (Arginine 569 and Alanine 323). b Exons of the CNGA3 gene (upper) and location of the mutations with respect to the topological model of the CNGA3 polypeptideBack to article page