Table 2 of De Bonis, Mol Vis 2011; 17:2482-2494.
Gene |
Protein alteration |
Polyphen analysis (PSIC score) |
SIFT analysis (Score) |
Prediction |
---|---|---|---|---|
VSX1 | p.G239R | 2.172 | <0.05 | Probably damaging/deleterious |
SPARC | p.E63K | 0.63 | 0.13 | Benign/tolerated |
SPARC | p.M92I | 2.023 | 0.45 | Probably damaging/tolerated |
SPARC | p.D219E | 0.827 | 0.16 | Benign/tolerated |