Table 2 of Zhang, Mol Vis 2010; 16:1353-1360.
Nucleotide | Residual | Case | PolyPhen | SIFT | PMUT | Grantham | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Location | change | change | Type | Sex | Age | Control | Prediction | PSIC score | Prediction | Score | Prediction | RI | Score |
Exon 4 | c.1222A>C | p.I408L | adRP | F | 56 | 0/552 | Borderline | 1.234 | Tolerant | 0.29 | Neutral | 9 | 5 |
Exon 4 | c.4108A>G | p.K1370E | sRP | F | 61 | 0/552 | Potentially damaging | 1.477 | Potentially Intolerant | 0.09 | Pathological | 0 | 56 |
Exon 4 | c.4955G>T | p.R1652L | sRP | F | 50 | 0/552 | Possibly damaging | 1.63 | Potentially Intolerant | 0.1 | Pathological | 7 | 102 |