In Silico Data
SCN5A Variant G1605C Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-6.85 | 1 | -2.92 | 0.972 | 49 | 1 |
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: | - | 2 | 2 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 12 | 0 | 3 | - | - |
G1605C has 41 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
1561 | 12 | |
1562 | 15 | |
1563 | 15 | |
1564 | 11 | |
1565 | 10 | L1565M, |
1566 | 15 | |
1567 | 15 | F1567L, |
1568 | 10 | |
1569 | 13 | A1569P, |
1571 | 14 | F1571C, |
1572 | 13 | |
1596 | 15 | F1596I, F1596C, |
1597 | 13 | V1597M, |
1598 | 11 | V1598A, |
1599 | 10 | |
1600 | 10 | |
1601 | 7 | L1601H, |
1602 | 5 | |
1603 | 6 | I1603F, |
1604 | 4 | V1604M, c.4810+3_4810+6dupGGGT, |
1605 | 0 | G1605C, G1605D, c.4813+2_4813+5dupTGGG, c.4813+5insTGGG, c.4813+3_4813+6dupGGGT, |
1606 | 4 | T1606I, |
1607 | 6 | |
1608 | 5 | |
1609 | 6 | S1609L, S1609W, |
1610 | 7 | D1610G, |
1611 | 11 | I1611V, |
1612 | 13 | |
1613 | 10 | Q1613L, Q1613H, |
1614 | 14 | |
1615 | 14 | Y1615X, |
1616 | 9 | |
1617 | 7 | p.F1617del, |
1618 | 10 | |
1619 | 10 | P1619Q, P1619L, c.4856delC, |
1620 | 13 | T1620M, T1620K, |
1621 | 13 | |
1622 | 8 | |
1623 | 12 | R1623L, R1623X, R1623Q, c.4867delC, |
1625 | 13 | |
1626 | 12 | R1626L, R1626P, R1626H, R1626C, |