In Silico Data
SCN5A Variant S1759C Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-4.57 | 0.923 | 6.64 | 0.84 | 8 | 31 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 1 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 14 | 1 | 0 | - | - |
S1759C has 70 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
371 | 13 | Q371E, |
374 | 14 | W374G, |
394 | 15 | |
397 | 14 | I397V, I397T, I397F, |
398 | 13 | |
401 | 15 | S401P, |
402 | 11 | F402L, |
1323 | 13 | V1323G, |
1324 | 14 | |
1326 | 14 | A1326S, |
1327 | 11 | |
1330 | 14 | A1330D, A1330P, A1330T, |
1331 | 13 | I1331V, |
1334 | 13 | I1334V, |
1338 | 15 | L1338V, |
1413 | 15 | |
1416 | 15 | A1416G, c.4245+2T>A, c.4245+1G>C, c.4245+1G>A, A1416E, |
1417 | 12 | |
1419 | 15 | K1419E, |
1462 | 13 | |
1463 | 15 | N1463Y, |
1465 | 11 | p.F1465_L1480dup, |
1466 | 13 | c.4396_4397insG, |
1469 | 12 | I1469V, |
1657 | 14 | |
1660 | 10 | I1660V, I1660S, |
1661 | 11 | G1661E, G1661R, |
1662 | 14 | |
1663 | 9 | |
1664 | 7 | |
1665 | 12 | |
1666 | 12 | |
1667 | 8 | V1667I, |
1668 | 9 | M1668T, |
1669 | 14 | |
1670 | 12 | |
1671 | 10 | |
1672 | 14 | S1672Y, |
1700 | 15 | |
1701 | 14 | M1701I, |
1703 | 14 | |
1704 | 10 | L1704H, |
1705 | 11 | |
1706 | 12 | Q1706H, |
1707 | 8 | |
1708 | 5 | T1708I, |
1709 | 8 | p.T1709del, T1709M, T1709R, |
1710 | 9 | S1710L, |
1711 | 11 | c.5131delG, |
1712 | 14 | G1712S, G1712C, |
1713 | 10 | |
1751 | 12 | |
1752 | 11 | |
1753 | 11 | T1753A, |
1754 | 9 | |
1755 | 5 | |
1756 | 6 | I1756V, |
1757 | 7 | |
1758 | 5 | I1758V, p.I1758del, |
1759 | 0 | S1759C, |
1760 | 6 | |
1761 | 7 | c.5280delG, L1761F, L1761H, |
1762 | 6 | I1762M, p.I1762del, |
1763 | 5 | V1763L, V1763M, |
1764 | 6 | c.5290delG, V1764F, |
1765 | 8 | |
1766 | 9 | M1766V, M1766T, M1766L, |
1767 | 11 | Y1767C, |
1768 | 12 | I1768V, |
1769 | 14 |