Table 3 of
Siemiatkowska, Mol Vis 2011; 17:3013-3024. Table 3 of
Siemiatkowska, Mol Vis 2011; 17:3013-3024.
Table 3. Pathogenicity predictions for missense and splice site mutations.
| Amino acid change prediction | |||||||
|---|---|---|---|---|---|---|---|
| Family code |
Gene affected |
Mutation (DNA) |
Mutation consequence |
SIFT |
PolyPhen |
Grantham score |
PhyloP |
| W09–0048 | CRB1 | c.3914C>T | p.P1305L | tolerated | probably damaging | 98 | 4.3 |
| W09–0046 | EYS | c.9082G>T | p.D3028Y | not tolerated | probably damaging | 160 | 3.6 |
| W09–0041 | NR2E3 | c.1025T>G | p.V342G | not tolerated | probably damaging | 109 | 0.6 |
| Splicing prediction | |||||||
| Family code |
Gene affected |
Mutation (DNA) |
Mutation consequence |
GeneSplicer |
MaxEntScan |
NNSPLICE |
SpliceSite finder-like |
| W09–0042 | ABCA4 | c.302+4A>C | altered splicing | 40% | 24% | 0.04% | 12.3% |
| W09–0045 | MERTK | c.2487–2A>G | altered splicing | 100% | 100% | 100% | 100% |