In Silico Data
SCN5A Variant I1334V Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-0.98 | 0.995 | 2.6 | 0.881 | 13 | 56 |
Reported Carrier Data
Functional Data
I1334V has 54 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
824 | 13 | |
828 | 14 | L828V, |
942 | 14 | |
944 | 14 | |
1323 | 15 | V1323G, |
1324 | 14 | |
1325 | 14 | N1325S, |
1326 | 11 | A1326S, |
1327 | 9 | |
1328 | 10 | V1328M, |
1329 | 8 | G1329S, |
1330 | 5 | A1330D, A1330P, A1330T, |
1331 | 5 | I1331V, |
1332 | 6 | P1332Q, P1332L, |
1333 | 4 | |
1334 | 0 | I1334V, |
1335 | 5 | M1335R, |
1336 | 7 | |
1337 | 5 | |
1338 | 6 | L1338V, |
1339 | 10 | L1339F, p.L1339del, |
1340 | 10 | V1340I, |
1341 | 10 | |
1342 | 13 | |
1343 | 15 | |
1345 | 14 | W1345C, |
1460 | 14 | F1460L, |
1461 | 12 | T1461S, |
1462 | 12 | |
1463 | 13 | N1463Y, |
1464 | 10 | L1464P, c.4389_4396delCCTCTTTA, |
1465 | 6 | p.F1465_L1480dup, |
1466 | 11 | c.4396_4397insG, |
1467 | 10 | |
1468 | 7 | V1468F, V1468A, |
1469 | 8 | I1469V, |
1470 | 13 | |
1471 | 12 | |
1472 | 10 | p.N1472del, N1472S, |
1473 | 13 | F1473C, F1473S, |
1753 | 14 | T1753A, |
1754 | 13 | |
1756 | 13 | I1756V, |
1757 | 8 | |
1758 | 10 | I1758V, p.I1758del, |
1759 | 13 | S1759C, |
1760 | 13 | |
1761 | 9 | L1761F, c.5280delG, L1761H, |
1762 | 7 | I1762M, p.I1762del, |
1763 | 12 | V1763L, V1763M, |
1764 | 14 | V1764F, c.5290delG, |
1765 | 11 | |
1766 | 11 | M1766T, M1766L, M1766V, |
1769 | 15 |