Table 4.
Pathogenicity predicted by three software for the non-synonymous mutations
| Dbsnp144 | Position | Transcript Consequence | Protein Consequence | SIFT | Polyphen | MutationTaster |
|---|---|---|---|---|---|---|
| rs191850409 | 35851824 | c.C14T | p.T5M | Tolerated | Benign | Polymorphism |
| rs116617171 | 35851666 | c.C65T | p.A22V | Damaging | Benign | Polymorphism |
| rs3814995 | 35851310 | c.G349A | p.E117K | Tolerated | Probably damaging | Polymorphism automatic |
| rs201234008 | 35849314 | c.C762A | p.H254Q | Tolerated | Benign | Polymorphism |
| rs115308424 | 35849273 | c.G803A | p.R268Q | Tolerated | Benign | Polymorphism |
| rs113825926 | 35849107 | c.C881T | p.T294I | Tolerated | Benign | Polymorphism |
| rs33950747 | 35848345 | c.G1223A | p.R408Q | Tolerated | Probably damaging | Disease causing |
| rs28939695 | 35848142 | c.G1339A | p.E447K | Tolerated | Probably damaging | Disease causing automatic |
| rs777418609 | 35843557 | c.A2249G | p.E750G | Damaging | Possibly damaging | Polymorphism |
| rs114896482 | 35842487 | c.C2398T | p.R800C | Tolerated | Benign | Polymorphism |
| – | 35842149 | c.G2638 T | p.V880F | Tolerated | Benign | Polymorphism |
| rs4806213 | 35831699 | c.A3230G | p.N1077S | Damaging | Benign | Polymorphism automatic |
Three different software are used to predict the likelihood of causing disease: SIFT, Polyphen and MutationTaster