Table 6. Predict the pathogenicity and damaging effects of the rs5743810 (Ser249Pro) and rs3796508 (Val327Met) mutations.
| Mutation nucleotide | Protein Change | Mutation taster | Polyphen-2.0 | SIFT | PROVEAN | Mutation Assessor | FATHMM | CONDEL |
|---|---|---|---|---|---|---|---|---|
| c.C>T | p.V327M | (0.99) Harmless polymorphism |
(0.069) Neutral |
(0.02) Damaging |
(-0.716) Neutral |
(2.015) Predicted functional (low-Medium) |
(3.03) Tolerated |
(0.362) Neutral |
| c.A>G | p.S249PRO | (0.99) Harmless polymorphism |
(0.000) Neutral |
(0.56) Neutral |
(1.124) Neutral |
(-1.06) Predicted non-functional (Neutral) |
(2.49) Tolerated |
(0.326) Neutral |