Fig. 4

Sequencing results and bioinformatic analysis of the gene mutation in our study. A Partial sequence diagram of PRPH2 exon 2. A heterozygous mutation c.626 T > A transition, causing the substitution of Valine to aspartic acid in codon 209, is shown with an arrow. B The structural domains of PRPH2. Mutations at the protein level are indicated below the domains. C Score of the novel damaging mutation c.626 T > A (p.V209D) in Polyphen v.2. D Cross-species conservation of PRPH2 in the vicinity of the mutation (p.V209) is displayed. E Protein structure prediction results of wild-type and mutant PRPH2