Figure 3. Mutation spectrum in the USH2A gene.

Gene level overview of the summarized USH2A mutations. The gene is comprised of 71 exons which harbored 1000 distinct mutations so far have been reported. The new identified mutations are marked as arrows in the schema. Each color of the box in the figure represents a mutation type: orange, nonsense mutation; black, splice site mutation; green, indel; pink, frameshift mutation; sky blue, mutation in 3′UTR; blue, intronic mutation; purple, missense mutation. Red asterisk indicates novel mutation discovered in this study. Het-one, single heterozygous mutation; homo, homozygous mutation.