In Silico Data
SCN5A Variant R1629Q Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-3.7 | 1 | -2.7 | 0.963 | 51 | 10 |
Reported Carrier Data
Functional Data
R1629Q has 65 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
259 | 13 | |
262 | 15 | S262G, |
263 | 12 | V263I, |
266 | 13 | L266H, |
267 | 14 | |
1530 | 13 | |
1531 | 12 | |
1532 | 14 | V1532I, V1532F, |
1533 | 13 | T1533I, |
1534 | 9 | |
1535 | 8 | |
1536 | 13 | |
1537 | 9 | |
1538 | 5 | |
1539 | 9 | C1539Y, C1539F, |
1540 | 12 | |
1541 | 8 | |
1542 | 9 | |
1543 | 14 | V1543L, V1543A, |
1544 | 14 | T1544P, |
1545 | 12 | |
1564 | 13 | |
1566 | 15 | |
1567 | 11 | F1567L, |
1568 | 11 | |
1569 | 13 | A1569P, |
1570 | 12 | p.1570_F1571insI, p.I1570dup, I1570V, |
1571 | 8 | F1571C, |
1572 | 12 | |
1573 | 13 | |
1574 | 9 | c.4719C>T, E1574K, |
1575 | 11 | C1575S, |
1578 | 11 | c.4732_4733dupAA, |
1586 | 12 | |
1587 | 15 | F1587V, |
1589 | 12 | |
1590 | 10 | |
1591 | 7 | W1591X, |
1592 | 9 | |
1593 | 10 | I1593M, |
1594 | 7 | F1594S, |
1595 | 5 | |
1596 | 11 | F1596I, F1596C, |
1597 | 9 | V1597M, |
1598 | 7 | V1598A, |
1599 | 9 | |
1600 | 13 | |
1601 | 12 | L1601H, |
1602 | 12 | |
1621 | 14 | |
1622 | 11 | |
1623 | 13 | R1623L, R1623X, R1623Q, c.4867delC, |
1624 | 10 | V1624I, |
1625 | 7 | |
1626 | 7 | R1626L, R1626P, R1626H, R1626C, |
1627 | 7 | |
1628 | 6 | |
1629 | 0 | R1629G, R1629X, R1629Q, |
1630 | 6 | I1630V, I1630R, |
1631 | 8 | G1631D, |
1632 | 5 | R1632L, R1632H, R1632C, |
1633 | 10 | |
1634 | 13 | L1634P, |
1635 | 11 | |
1636 | 13 |