In Silico Data
SCN5A Variant V1777L Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-2.7 | 0.888 | -2.59 | 0.886 | 7 | 55 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
30059973 | 2018 | 1 | 1 | 0 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 0 | 1 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 13 | 1 | 1 | - | - |
Functional Data
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|
PubMed ID | Year | Cell Type | Peak Current (%WT) | V1/2 Act. (mV) | V1/2 Inact. (mV) | Late/Persistent Current (%WT) |
---|---|---|---|---|---|---|
30059973 | 2018 |
V1777L has 67 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
407 | 14 | |
409 | 15 | L409V, L409P, |
410 | 11 | A410V, |
411 | 13 | V411M, |
413 | 13 | A413E, A413T, |
414 | 11 | M414V, |
415 | 15 | A415T, |
417 | 14 | |
418 | 15 | E418K, |
1470 | 13 | |
1471 | 14 | |
1473 | 13 | F1473S, F1473C, |
1474 | 10 | |
1475 | 14 | p.Q1475NfsX6, Q1475L, |
1476 | 15 | Q1476R, Q1476X, |
1477 | 9 | K1477N, |
1478 | 11 | K1478E, |
1480 | 14 | c.4438-1C>T, c.4437+5G>A, |
1481 | 12 | G1481E, G1481V, G1481R, |
1482 | 13 | |
1487 | 14 | M1487L, M1487K, |
1488 | 13 | T1488R, |
1489 | 9 | E1489D, |
1490 | 12 | |
1491 | 14 | Q1491H, |
1492 | 9 | |
1493 | 8 | K1493R, p.K1493del, K1493X, |
1494 | 15 | |
1495 | 13 | Y1495S, |
1496 | 9 | |
1497 | 12 | |
1499 | 14 | |
1500 | 12 | p.K1500del, |
1642 | 14 | G1642E, |
1645 | 11 | T1645M, |
1646 | 11 | |
1647 | 14 | |
1648 | 10 | |
1649 | 8 | A1649V, |
1650 | 12 | L1650F, |
1651 | 13 | |
1652 | 8 | M1652R, M1652T, |
1653 | 11 | |
1656 | 15 | |
1769 | 12 | |
1770 | 11 | I1770V, |
1771 | 11 | I1771T, |
1772 | 10 | L1772V, |
1773 | 7 | |
1774 | 6 | c.5321_5324dupACTT, N1774D, |
1775 | 7 | p.F1775LfsX15, F1775V, |
1776 | 4 | |
1777 | 0 | V1777L, V1777M, |
1778 | 4 | |
1779 | 6 | T1779M, |
1780 | 6 | E1780G, |
1781 | 5 | E1781G, E1781D, |
1782 | 9 | |
1783 | 10 | |
1784 | 12 | E1784K, E1784X, |
1785 | 10 | |
1786 | 12 | c.5356_5357delCT, L1786R, L1786Q, |
1787 | 11 | S1787N, |
1788 | 12 | c.5361_5364delTGAG, |
1789 | 15 | |
1790 | 15 | p.D1790del, D1790N, D1790G, |
1791 | 15 |