In Silico Data
SCN5A Variant c.4438-1C>T Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
NA | NA | NA | None | 34 | 32 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
22633666 | 2012 | 2 | 0 | 1 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 2 | 1 | 0 | 1 | - | |
VARIANT FEATURES ALONE: | - | 15 | 12 | 1 | 2 | - | - |
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) |
---|---|---|---|---|---|---|
22633666 | 2012 |
c.4438-1C>T has 40 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
1315 | 15 | |
1317 | 14 | F1317C, |
1318 | 10 | |
1319 | 10 | G1319V, |
1320 | 13 | M1320I, |
1321 | 9 | R1321K, |
1322 | 7 | c.3963+4A>G, c.3963+2T>C, |
1323 | 11 | V1323G, |
1324 | 13 | |
1325 | 10 | N1325S, |
1326 | 12 | A1326S, |
1329 | 15 | G1329S, |
1472 | 13 | p.N1472del, N1472S, |
1473 | 11 | F1473S, F1473C, |
1474 | 11 | |
1475 | 9 | Q1475L, p.Q1475NfsX6, |
1476 | 6 | Q1476R, Q1476X, |
1477 | 6 | K1477N, |
1478 | 8 | K1478E, |
1479 | 6 | |
1480 | 0 | c.4438-1C>T, c.4437+5G>A, |
1481 | 4 | G1481R, G1481V, G1481E, |
1482 | 7 | |
1483 | 11 | Q1483H, |
1484 | 12 | |
1485 | 15 | |
1492 | 12 | |
1495 | 12 | Y1495S, |
1496 | 12 | |
1499 | 13 | |
1652 | 14 | M1652T, M1652R, |
1653 | 14 | |
1655 | 14 | |
1656 | 12 | |
1659 | 14 | |
1769 | 15 | |
1770 | 13 | I1770V, |
1773 | 12 | |
1774 | 13 | c.5321_5324dupACTT, N1774D, |
1777 | 14 | V1777L, V1777M, |