Table 5 of
Lin, Mol Vis 2013; 19:1572-1579. Table 5 of
Lin, Mol Vis 2013; 19:1572-1579.
Table 5. Variations Found in EZR and PolyPhen2 Results of the Nonsynonymous Mutations
| Nucleotide notation | Protein notation | Polyphen2 score | Polyphen2 prediction |
|---|---|---|---|
| c.441C>G | synonymous | - | - |
| c.924G>C | p.Q308H | 1.000 | Probably damaging |
| c.1503G>A | synonymous | - | - |
| c.17A>G | p.N6S | 0.992 | Probably damaging |