Figure 5. Nucleotide and amino acid substitutions identified within the canine ABCA4 gene

Nucleotide and amino acid sequence variations are shown for both chromosomes for each of 3 animals (AS22 is Animal 22, genotype crd/crd; AS23 is Animal 23, genotype +/; Animal P1117, genotype +/+) and compared to the corresponding human sequence. Six polymorphisms (within codons 101, 147, 196, 627, 1322 and 1747, as identified in the top label) are present among the canine sequences. Complete sequence (nucleotide in top set, amino acid in bottom set) is only shown for one chromosome of AS22 (top row of each set), for other data rows only the variant allele is shown (dots represent conserved sequence identities). Chromatograms (bottom figures) demonstrate sequence traces from one animal per polymorphism (red is T, blue is C, black is G, green is A), with arrows indicating the polymorphic site. Thus, P1117 is TT at the polymorphic site in codon 101, AG in 147, AT in 196, AC in 626, and AG in 1322; and AS22 is AG in 1747.