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% |
List of missense and splice site mutations identified in this study and predictions of their consequences with the use of freely available software. Splicing prediction shows the percent decrease in comparison to the original splice site scores.