Table 2 of
Bouzidi, Mol Vis 2021; 27:17-25. Table 2 of
Bouzidi, Mol Vis 2021; 27:17-25.
Table 2. Genetic analysis and variant characterization in RP patients.
| Patient | Gene | Variant | aa change | gnomAD frequency | Polyphen-2 | SIFT | Mutation Taster |
|---|---|---|---|---|---|---|---|
| RP1.03 | CRB1 | NM_001257966: c.1690G>T | p.Asp564Tyr | . | damaging | damaging | disease causing |
| NM_001257966: c.1913C>T | p.Ser638Leu | 1.592e-05 | damaging | damaging | disease causing | ||
| RP2.03 | PDE6B | NM_000283: c.1920+2T>C | p.? | 7.974e-06 | . | . | disease causing |
| RP3.03 | ABCA4 | NM_000350: c.5908C>T | p.Leu1970Phe | 0.003 | possibly damaging | tolerated | disease causing |
| NM_000350: c.6148G>C | p.Val2050Leu | 0.00286 | possibly damaging | tolerated | disease causing |