In Silico Data
SCN5A Variant Y1767C Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-8.31 | 0.995 | -3.05 | 0.982 | 9 | 73 |
Reported Carrier Data
Functional Data
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|
Y1767C has 72 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
369 | 14 | M369K, |
371 | 13 | Q371E, |
394 | 13 | |
395 | 14 | |
396 | 14 | V396A, V396L, |
397 | 11 | I397V, I397F, I397T, |
398 | 7 | |
399 | 10 | |
400 | 10 | G400A, G400E, G400R, |
401 | 9 | S401P, |
402 | 5 | F402L, |
403 | 7 | |
404 | 11 | L404V, L404Q, |
405 | 10 | |
406 | 8 | N406K, N406S, |
407 | 12 | |
408 | 14 | |
409 | 12 | L409P, L409V, |
410 | 13 | A410V, |
1319 | 13 | G1319V, |
1320 | 12 | M1320I, |
1322 | 13 | c.3963+2T>C, c.3963+4A>G, |
1323 | 10 | V1323G, |
1324 | 14 | |
1326 | 13 | A1326S, |
1327 | 14 | |
1466 | 11 | c.4396_4397insG, |
1467 | 15 | |
1469 | 11 | I1469V, |
1470 | 12 | |
1473 | 11 | F1473C, F1473S, |
1477 | 14 | K1477N, |
1649 | 13 | A1649V, |
1650 | 11 | L1650F, |
1651 | 14 | |
1652 | 13 | M1652R, M1652T, |
1653 | 8 | |
1654 | 10 | |
1655 | 10 | |
1656 | 8 | |
1657 | 5 | |
1658 | 9 | |
1659 | 10 | |
1660 | 6 | I1660V, I1660S, |
1661 | 8 | G1661E, G1661R, |
1662 | 11 | |
1663 | 10 | |
1664 | 9 | |
1665 | 14 | |
1667 | 14 | V1667I, |
1668 | 15 | M1668T, |
1705 | 15 | |
1708 | 12 | T1708I, |
1709 | 12 | T1709R, p.T1709del, T1709M, |
1758 | 14 | I1758V, p.I1758del, |
1759 | 11 | S1759C, |
1760 | 12 | |
1761 | 13 | c.5280delG, L1761F, L1761H, |
1762 | 11 | I1762M, p.I1762del, |
1763 | 8 | V1763L, V1763M, |
1764 | 6 | c.5290delG, V1764F, |
1765 | 8 | |
1766 | 7 | M1766T, M1766V, M1766L, |
1767 | 0 | Y1767C, |
1768 | 6 | I1768V, |
1769 | 7 | |
1770 | 6 | I1770V, |
1771 | 6 | I1771T, |
1772 | 10 | L1772V, |
1773 | 12 | |
1774 | 11 | c.5321_5324dupACTT, N1774D, |
1775 | 14 | F1775V, p.F1775LfsX15, |