In Silico Data
SCN5A Variant V1597M Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-2.51 | 0.981 | 0.99 | 0.942 | 2 | 15 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
24606995 | 2014 | 1 | 1 | 0 | 0 | ||
LITERATURE, COHORT, AND GNOMAD: | - | 6 | 5 | 1 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 15 | 0 | 0 | - | - |
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) |
---|---|---|---|---|---|---|
24606995 | 2014 |
V1597M has 51 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
1538 | 14 | |
1541 | 15 | |
1568 | 12 | |
1569 | 15 | A1569P, |
1571 | 11 | F1571C, |
1572 | 12 | |
1573 | 14 | |
1574 | 12 | c.4719C>T, E1574K, |
1575 | 10 | C1575S, |
1576 | 14 | |
1578 | 13 | c.4732_4733dupAA, |
1579 | 13 | L1579fsX53, |
1586 | 11 | |
1587 | 11 | F1587V, |
1588 | 15 | T1588I, |
1589 | 13 | |
1590 | 11 | |
1591 | 12 | W1591X, |
1592 | 10 | |
1593 | 7 | I1593M, |
1594 | 6 | F1594S, |
1595 | 7 | |
1596 | 5 | F1596I, F1596C, |
1597 | 0 | V1597M, |
1598 | 4 | V1598A, |
1599 | 6 | |
1600 | 5 | |
1601 | 6 | L1601H, |
1602 | 9 | |
1603 | 10 | I1603F, |
1604 | 10 | V1604M, c.4810+3_4810+6dupGGGT, |
1605 | 13 | G1605C, G1605D, c.4813+2_4813+5dupTGGG, c.4813+5insTGGG, c.4813+3_4813+6dupGGGT, |
1606 | 14 | T1606I, |
1607 | 15 | |
1616 | 14 | |
1617 | 10 | p.F1617del, |
1618 | 12 | |
1619 | 14 | P1619Q, P1619L, c.4856delC, |
1620 | 14 | T1620M, T1620K, |
1621 | 10 | |
1622 | 9 | |
1623 | 13 | R1623L, R1623X, R1623Q, c.4867delC, |
1624 | 11 | V1624I, |
1625 | 6 | |
1626 | 10 | R1626L, R1626P, R1626H, R1626C, |
1627 | 13 | |
1628 | 10 | |
1629 | 9 | R1629G, R1629X, R1629Q, |
1630 | 15 | I1630V, I1630R, |
1631 | 15 | G1631D, |
1632 | 13 | R1632L, R1632H, R1632C, |