Table 2 of Ávila-Fernández, Mol Vis 2010; 16:2550-2558. Table 2 of Ávila-Fernández, Mol Vis 2010; 16:2550-2558.
Table 2. Mutations identified in patients with typical RP.
| Typical RP | ||||||
|---|---|---|---|---|---|---|
| Mutation 1 | Mutation 2 | |||||
| Family | Inheritance pattern | Gene | Nucleotide change | Protein defect | Nucleotide change | Protein defect |
| RP-0211# | SRP | CERKL | c.769C>T | p.Arg257Stop | c.769C>T | p.Arg257Stop |
| RP-0218# | SRP* | CERKL | c.769C>T | p.Arg257Stop | c.769C>T | p.Arg257Stop |
| RP-0320# | ARRP* | CERKL | c.769C>T | p.Arg257Stop | c.769C>T | p.Arg257Stop |
| RP-0325# | SRP | CERKL | c.769C>T | p.Arg257Stop | c.769C>T | p.Arg257Stop |
| RP-0535# | ARRP | CERKL | c.769C>T | p.Arg257Stop | c.769C>T | p.Arg257Stop |
| RP-0595# | ARRP** | CERKL | c.769C>T | p.Arg257Stop | c.769C>T | p.Arg257Stop |
| RP-0657 | SRP | CERKL | c.769C>T | p.Arg257Stop | c.769C>T | p.Arg257Stop |
| RP-0828# | SRP** | CERKL | c.769C>T | p.Arg257Stop | c.769C>T | p.Arg257Stop |
| RP-1159 | ARRP | CERKL | c.769C>T | p.Arg257Stop | c.769C>T | p.Arg257Stop |
| RP-0159 | ARRP* | CNGA1 | c.94G>A | p.Arg32Stop | ||
| RP-1080 | SRP | CNGA1 | c.94G>A | p.Arg32Stop | c.94G>A | p.Arg32Stop |
| RP-1147 | ARRP | CNGA1 | c.94G>A | p.Arg32Stop | ||
| RP-1106 | SRP | CRB1 | c.2681A>G | p.Asn894Ser | ||
| RP-0881 | SRP | PDE6A | c.305G>A | p.Arg102His | c.305G>A | p.Arg102His |
| RP-1023 | SRP | SAG | c.577C>T | p.Arg193Stop | ||
| RP-1292 | ARRP | SAG | c.577C>T | p.Arg193Stop | ||
| RP-0134 | SRP | USH2A | c.1606T>C | p.Cys536Arg | ||
| RP-0204 | ARRP | USH2A | c.2276G>T | p.Cys759Phe | c.9799T>C | p.Cys3267Arg |
| RP-0260 | SRP | USH2A | c.9799T>C | p.Cys3267Arg | c.10073G>A | p.Cys3358Tyr^ |
| RP-0332 | ARRP | USH2A | c.2276G>T | p.Cys759Phe | c.2276G>T | p.Cys759Phe |
| RP-0404 | SRP** | USH2A | c.2167+5G>A | Splicing defect | c.2167+5G>A | Splicing defect |
| RP-0467 | ARRP | USH2A | c.2276G>T | p.Cys759Phe | ||
| RP-0653 | SRP | USH2A | c.2276G>T | p.Cys759Phe | c.12575G>A | p.Arg4192His^ |
| RP-0721 | SRP | USH2A | c.2276G>T | p.Cys759Phe | c. 3713C>G | p.Thr1238Arg^ |
| RP-0849 | ARRP* | USH2A | c.2276G>T | p.Cys759Phe | c.2276G>T | p.Cys759Phe |
| RP-0930 | SRP | USH2A | c.2276G>T | p.Cys759Phe | c.2276G>T | p.Cys759Phe |
| RP-1016 | ARRP | USH2A | c.2276G>T | p.Cys759Phe | ||
| RP-1053 | SRP | USH2A | c.2276G>T | p.Cys759Phe | c.13745del | p.Ile4582Lysfs14^ |
| RP-1059 | SRP | USH2A | c.2276G>T | p.Cys759Phe | ||