Figure 4. Mutation spectrum of SAG. The location of the known and new sequence variants are depicted above and below the gene (in cDNA notation; upper panel) and protein (in amino acid notation; lower panel), respectively. Oguchi associated mutations are indicated in blue letters while the Oguchi and retinitis pigmentosa associated mutation is shown in dark orchid color. The novel nonsense mutation (c.916G>T; p.Glu306X) is depicted in black letters below the gene and the predicted protein, which hypothetically would result in a protein with a severely truncated C domain.