Table 2 of
Sun, Mol Vis 2017; 23:977-986. Table 2 of
Sun, Mol Vis 2017; 23:977-986.
Table 2. Mutations identified in our study and results of predictive programs.
| Patient | Gene | Base change | Amino acid change | Allele Frequency(ExAC) | Polyphen2 | SIFT | Mutation Taster |
|---|---|---|---|---|---|---|---|
| Family A | CRYAA | c.61C>T | p.(Arg21Trp) | — | Probably damaging | Affect protein function | Disease causing |
| Family B | CRYBB2 | c.446G>T | p.(Gly149Val) | — | Probably damaging | Affect protein function | Disease causing |
| Family C | CRYGC | c.432C>G | p.(Tyr144Ter) | — | — | — | — |
| Family D | CRYGC | c.130delA | p.(Met44CysfsTer59) | — | — | — | — |
| Simplex 1 | CRYBB1 | c.688C>T | p.(Arg230Cys) | 8.29E-06 | Probably damaging | Affect protein function | Disease causing |
| Simplex 2 | CRYGC | c.143G>A | p.(Arg48His) | 0.01742 | Benign | Tolerated | Disease causing |