Table 1 of
de Sousa Dias, Mol Vis 2015; 21:857-870. Table 1 of
de Sousa Dias, Mol Vis 2015; 21:857-870.
Table 1. Previously identified genetic variants that were present in the 5 chimerical samples from Spanish families with adRP.
| Chimerical sample | Gene | Variant | Protein change |
|---|---|---|---|
| 1 | RHO | c.119C>T | p.Leu40Pro |
| PRPF31 | c.735C>T | None (c.735C>T) | |
| IMPDH1 | c.926G>C | p.Arg309Pro | |
| 2 | RHO | c.644C>T | p.Pro215Leu |
| IMPDH1 | c.962C>T | p.Ala321Val | |
| CRX | c.425A>G | p.Try141Cys | |
| 3 | RHO | c.1040C>T | p.Pro347Leu |
| PRPF8 | c.6968_6988del21bp | p.Val2325fsX2329 | |
| RP1 | c.2115delA | p.Lys705fsX712 | |
| 4 | PRFP31 | c.669_770insA | p.Lys257fsX277 |
| PRPF3 | c.1466C>A | p.Ala489Asp | |
| RP1 | c.2038C>T | p.Arg677X | |
| 5 | RHO | c.217_219delAAC | p.Asn73del |
| PRPF31 | c.328_330delATC | p.Ile109del | |
| PRPH2 | c.641G>A | p.Cys214Tyr |