Table 4 Summary of the bioinformatics predictions for the novel causative putative mutations detected in this study.
Patient | Gene | Nucleotide | Class | Protein function prediction tools | TIS prediction tools | Splicing impact prediction tools | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIFT | PPH | PROVEAN | ATGpr | NetStart | TIS Miner | HSF | MaxEnt | NNSplice | ||||
RP1350 | ADGRV1 | c.4102A > T | UV4 | D | D | D | — | — | — | N | N | N |
RP1353 | ADGRV1 | c.5314 − 5T > A | UV4 | — | — | — | — | — | — | N | WT AS broken | Main AS not recognized |
RP1540 | MYO7A | c.1816C > T | UV4 | D | D | D | — | — | — | N | N | N |
RP1564 | ADGRV1 | c.14159C > T | UV4 | D | D | D | — | — | — | N | N | N |
RP1567 | MYO7A | c.3G > A | UV4 | D | N | N | TIS lost | TIS lost | TIS lost | N | N | N |
RP1694 | USH1G | c.1196T > C | UV3 | D | D | N | — | — | — | N | N | N |
RP1746 | USH2A | c.12295 − 1G > A | UV4 | — | — | — | — | — | — | WT AS broken | WT AS broken | Main AS not recognized |
RP1857 | CDH23 | c.3115G > A | UV3 | D | D | N | New TIS | New TIS | New TIS | N | N | Main DS not recognized |
RP1857 | CDH23 | c.3007T > C | UV4 | D | D | D | — | — | — | N | N | N |
RP1869 | USH2A | c.4385C > T | UV4 | D | D | D | — | — | — | N | N | N |
RP1872 | USH2A | c.5776 + 1G > A | UV4 | — | — | — | — | — | — | WT DS broken | WT DS broken | Main DS not recognized |
RP1900 | MYO7A | c.1691 − 1G > A | UV4 | — | — | — | — | — | — | WT AS broken and NS created | WT AS broken | Main AS not recognized |
RP1571 | CIB2 | c.311G > A | UV3 | N | D | D | — | — | — | N | N | N |
RP1222 | USH1C | c.1234G > A | UV3 | D | P | N | — | — | — | N | N | N |
