Table 1 of Ávila-Fernández, Mol Vis 2010; 16:2550-2558. Table 1 of Ávila-Fernández, Mol Vis 2010; 16:2550-2558.
Table 1. Mutations identified in patients with juvenile RP.
| Juvenile RP | ||||||
|---|---|---|---|---|---|---|
| Mutation 1 | Mutation 2 | |||||
| Family | Inheritance pattern | Gene | Nucleotide change | Protein defect | Nucleotide change | Protein defect |
| RP-0531 | ARRP | CNGA1 | c.94G>A | p.Arg32Stop | c.94G>A | p.Arg32Stop |
| RP-0561 | ARRP | CRB1 | c.2234C>T | p.Thr745Met | c.3988G>T | p.Glu1330Stop^ |
| RP-1311 | SRP | CRB1 | c.611_617delAAATAGG | p.Ile205AspfsX13 | ||
| RP-0235 | ARRP | PDE6A | c.304C>A | p.Arg102Ser | ||
| RP-0341 | ARRP | PDE6A | c.998+1G>A | Splicing defect | c.1705C>A | p.Gly569Lys^ |
| RP-0054 | SRP | PDE6B | c.810C>A | p.Cys270Stop | c.810C>A | p.Cys270Stop |
| RP-0340 | ARRP | RDH12 | c.464C>T | p.Tyr155Ile | c.464C>T | p.Tyr155Ile |
| RP-0379 | SRP | RDH12 | c.375T>A | p.Asn125Lys | c.701G>A | p.Arg234Hys |
| RP-1339 | SRP | RDH12 | c.295C>A | p.Leu99Ile | c.278T>C | p.Leu93Pro^ |
| RP-0979 | ARRP | RLBP1 | c.451C>T | p.Arg151Gln | c.451C>T | p.Arg151Gln |
| RP-1115 | ARRP* | RPE65 | c.95–2A>T | Splicing defect | c.457A>G | p.Thr153Ala^ |
| RP-1206 | SRP | SAG | c.577C>T | p.Arg193Stop | c.577C>T | p.Arg193Stop |