Table 2 of Kodaganur, Mol Vis 2013; 19:1694-1706.
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 |