Table 2 of
Kodaganur, Mol Vis 2013; 19:1694-1706. Table 2 of
Kodaganur, Mol Vis 2013; 19:1694-1706.
Table 2. Effect of novel mutations on SLC4A11 function by the in silico analysis.
| Sl.# | Family | Mutation | PolyPhen-2 score | Mutation Taster score |
|---|---|---|---|---|
| 1 | Family 3 | c.1831T>C | Probably damaging with | Disease causing with |
| (p.Cys611Arg) | a score of 0.99 | a p value of 0.99 | ||
| 2 | Family 4 and | c.1249 G>A | Probably damaging with | Disease causing with |
| Family 7 | (p.Gly417Arg) | a score of 1 | a p value of 0.99 | |
| 3 | Family 5 | c.2170 C>G | Probably damaging with | Disease causing with |
| (p.His724Asp) | a score of 1 | a p value of 0.99 | ||
| 4 | Family 6 | c.785C>T | Probably damaging | Disease causing with |
| (p.Thr262Ile) | with a score of 1 | a p value of 0.99 |