Table 3 Prediction effect of six missense variants in SLC5A2 gene were performed by PolyPhen-2 and SIFT
Missense variants | PolyPhen-2 | SIFT | ||
|---|---|---|---|---|
Predicted | Score | Predicted | Score | |
c.305C > T/p.(A102V) | PROBABLY DAMAGING | 1 | AFFECT PROTEIN FUNCTION | 0.01 |
c.395G > A/p.(R132H) | PROBABLY DAMAGING | 1 | AFFECT PROTEIN FUNCTION | 0.00 |
c.736C > T/p. (P246S) | PROBABLY DAMAGING | 1 | TOLERATED | 0.42 |
c.1222G > T/p.(D408Y) | PROBABLY DAMAGING | 1 | AFFECT PROTEIN FUNCTION | 0.00 |
c.1496G > A/p.(R499H) | PROBABLY DAMAGING | 1 | AFFECT PROTEIN FUNCTION | 0.00 |
c.1540 C > T/p.(P514S) | PROBABLY DAMAGING | 1 | AFFECT PROTEIN FUNCTION | 0.03 |