Figure 4.

Electropherograms of novel IRD mutations and amino acid sequence alignment of parts of human CNGA3 and RPGRIP1. (a) DNA sequences from control individuals, unaffected heterozygous carriers, and patients are shown. Mutated nucleotides are indicated by asterisks. The CNGA3 mutation was detected in family MA69, the RPGRP1 mutation in family MA117, and the CNGB1 mutation was found in family MA97. (b) Human sequences are aligned with orthologous proteins from other vertebrates. Ten upstream and 10 downstream amino acids of the respective missense variants p.G331R and p.L886F are depicted. Residues identical to the human sequence across all sequences are black on a white background whereas different amino acids are indicated in white on a grey background. The amino acid residue at the position of the missense change is indicated in bold.