In Silico Data
SCN5A Variant L1761R Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | 0.983 | 26 | 61 |
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 | 11 | 2 | 2 | - | - |
L1761R has 75 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
1417 | 9 | |
1765 | 6 | |
1340 | 14 | V1340I, |
1457 | 12 | |
1757 | 5 | |
1413 | 11 | |
1472 | 14 | N1472S, p.N1472del, |
1339 | 15 | p.L1339del, L1339F, |
1756 | 6 | I1756V, |
1461 | 10 | T1461S, |
1764 | 8 | c.5290delG, V1764F, |
371 | 15 | Q371E, |
1333 | 12 | |
1711 | 14 | c.5131delG, |
1754 | 10 | |
1707 | 12 | |
1458 | 11 | S1458Y, |
1671 | 14 | |
935 | 14 | L935P, |
1762 | 5 | I1762M, p.I1762del, |
1470 | 13 | |
1464 | 10 | c.4389_4396delCCTCTTTA, L1464P, |
1466 | 9 | c.4396_4397insG, |
1753 | 10 | T1753A, |
1767 | 13 | Y1767C, |
1660 | 14 | I1660V, I1660S, |
1329 | 15 | G1329S, |
1769 | 13 | |
1418 | 13 | |
402 | 14 | F402L, |
1766 | 10 | M1766L, M1766T, M1766V, |
1768 | 11 | I1768V, |
1473 | 15 | F1473C, F1473S, |
1334 | 9 | I1334V, |
1341 | 11 | |
1468 | 11 | V1468F, V1468A, |
1663 | 14 | |
1462 | 7 | |
938 | 15 | |
1759 | 7 | S1759C, |
1327 | 12 | |
1709 | 11 | T1709M, T1709R, p.T1709del, |
1758 | 7 | I1758V, p.I1758del, |
1459 | 14 | c.4376_4379delTCTT, |
1755 | 9 | |
1330 | 12 | A1330D, A1330P, A1330T, |
1460 | 14 | F1460L, |
1713 | 11 | |
1338 | 9 | L1338V, |
1708 | 11 | T1708I, |
1409 | 14 | Y1409C, Y1409X, |
1345 | 12 | W1345C, |
1337 | 10 | |
1342 | 14 | |
1326 | 14 | A1326S, |
1763 | 8 | V1763M, V1763L, |
1751 | 15 | |
1416 | 11 | A1416E, A1416G, c.4245+1G>C, c.4245+2T>A, c.4245+1G>A, |
1332 | 14 | P1332Q, P1332L, |
1465 | 5 | p.F1465_L1480dup, |
1760 | 4 | |
1467 | 11 | |
1752 | 13 | |
1331 | 11 | I1331V, |
1761 | 0 | L1761F, L1761H, c.5280delG, |
1469 | 9 | I1469V, |
1336 | 14 | |
1710 | 10 | S1710L, |
1415 | 15 | |
1335 | 13 | M1335R, |
1419 | 14 | K1419E, |
1667 | 13 | V1667I, |
1414 | 13 | Q1414H, |
1664 | 13 | |
1463 | 9 | N1463Y, |