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 |