Table 2 Identification and analysis of the novel variant
From: Identification of genetic variants in two families with Keratoconus
EXON No | Change | Phenotype | Conservation | Polyphen2 prediction | SIFT Prediction | Provean | Mutation Taster Prediction |
|---|---|---|---|---|---|---|---|
7 | c.622A > G | Nonsynonymous (p.Ser208Gly) | HC | Benign | Deleterious | Deleterious | Disease causing |