In Silico Data
SCN5A Variant I1603F Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-3.03 | 0.891 | 0.51 | 0.962 | 26 | 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: | - | 1 | 1 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 13 | 0 | 2 | - | - |
I1603F has 40 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
1561 | 15 | |
1564 | 13 | |
1565 | 11 | L1565M, |
1566 | 14 | |
1567 | 14 | F1567L, |
1568 | 8 | |
1569 | 10 | A1569P, |
1570 | 14 | p.1570_F1571insI, p.I1570dup, I1570V, |
1571 | 12 | F1571C, |
1572 | 9 | |
1573 | 13 | |
1574 | 14 | E1574K, c.4719C>T, |
1575 | 12 | C1575S, |
1576 | 13 | |
1595 | 13 | |
1596 | 10 | F1596I, F1596C, |
1597 | 10 | V1597M, |
1598 | 9 | V1598A, |
1599 | 6 | |
1600 | 5 | |
1601 | 6 | L1601H, |
1602 | 4 | |
1603 | 0 | I1603F, |
1604 | 5 | V1604M, c.4810+3_4810+6dupGGGT, |
1605 | 6 | c.4813+3_4813+6dupGGGT, G1605D, c.4813+2_4813+5dupTGGG, G1605C, c.4813+5insTGGG, |
1606 | 6 | T1606I, |
1607 | 5 | |
1608 | 7 | |
1609 | 10 | S1609L, S1609W, |
1610 | 12 | D1610G, |
1611 | 14 | I1611V, |
1613 | 15 | Q1613H, Q1613L, |
1616 | 11 | |
1617 | 10 | p.F1617del, |
1618 | 13 | |
1619 | 14 | P1619L, c.4856delC, P1619Q, |
1621 | 15 | |
1622 | 10 | |
1625 | 13 | |
1626 | 13 | R1626H, R1626P, R1626L, R1626C, |