In Silico Data
SCN5A Variant M1766I Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | 0.953 | 12 | 64 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 0 | 0 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 12 | 2 | 1 | - | - |
M1766I has 75 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
403 | 14 | |
1328 | 11 | V1328M, |
1659 | 11 | |
1773 | 11 | |
1765 | 6 | |
1653 | 12 | |
1757 | 11 | |
1472 | 9 | N1472S, p.N1472del, |
1315 | 14 | |
1771 | 10 | I1771T, |
1756 | 14 | I1756V, |
1314 | 14 | c.3940_3941delCT, |
1320 | 10 | M1320I, |
1764 | 6 | c.5290delG, V1764F, |
1666 | 14 | |
409 | 15 | L409P, L409V, |
1333 | 13 | |
1656 | 10 | |
1477 | 12 | K1477N, |
1471 | 12 | |
935 | 15 | L935P, |
1762 | 6 | I1762M, p.I1762del, |
1470 | 9 | |
1464 | 14 | L1464P, c.4389_4396delCCTCTTTA, |
1466 | 9 | c.4396_4397insG, |
1767 | 7 | Y1767C, |
1660 | 6 | I1660V, I1660S, |
1654 | 15 | |
1329 | 11 | G1329S, |
1769 | 6 | |
402 | 11 | F402L, |
1766 | 0 | M1766T, M1766V, M1766L, |
1319 | 12 | G1319V, |
1768 | 7 | I1768V, |
1774 | 13 | N1774D, c.5321_5324dupACTT, |
1473 | 6 | F1473C, F1473S, |
1334 | 11 | I1334V, |
1468 | 10 | V1468A, V1468F, |
1663 | 9 | |
1462 | 15 | |
1657 | 9 | |
1474 | 13 | |
1759 | 9 | S1759C, |
1662 | 12 | |
1324 | 9 | |
1327 | 7 | |
1709 | 14 | T1709M, T1709R, p.T1709del, |
1758 | 10 | p.I1758del, I1758V, |
1755 | 14 | |
1330 | 9 | A1330T, A1330P, A1330D, |
1772 | 11 | L1772V, |
1323 | 7 | V1323G, |
1770 | 7 | I1770V, |
1708 | 13 | T1708I, |
1322 | 10 | c.3963+4A>G, c.3963+2T>C, |
1326 | 7 | A1326S, |
1763 | 4 | V1763L, V1763M, |
1332 | 14 | P1332Q, P1332L, |
1465 | 11 | p.F1465_L1480dup, |
1760 | 11 | |
1467 | 11 | |
1476 | 11 | Q1476X, Q1476R, |
1661 | 10 | G1661E, G1661R, |
1331 | 11 | I1331V, |
1761 | 10 | c.5280delG, L1761F, L1761H, |
1655 | 14 | |
1475 | 14 | Q1475L, p.Q1475NfsX6, |
1469 | 6 | I1469V, |
406 | 12 | N406K, N406S, |
1325 | 11 | N1325S, |
398 | 13 | |
1667 | 12 | V1667I, |
1664 | 10 | |
1463 | 14 | N1463Y, |
1658 | 13 |