Figure 5. Sequence chromatograms and alignment of AIPL1 Arg 258 in 19 species. A: Electropherograms show the normal control sequence (left), carrier sequence (middle) and affected sequence (right) surrounding
the AIPL1 c.773G>C mutation. B: Amino acid sequence alignment around the AIPL1 R258 residue (red) in 21 species ranging from human to zebrafish. R258 is part of a highly conserved region, suggesting that
the R258P change would be highly deleterious for protein structure and enzymatic activity.