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