In Silico Data
SCN5A Variant I1630R Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-6.48 | 1 | -4.77 | 0.963 | 20 | 12 |
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 | - | - |
I1630R has 61 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
255 | 14 | |
256 | 12 | |
257 | 14 | |
258 | 13 | V258A, |
259 | 7 | |
260 | 10 | |
261 | 13 | |
262 | 9 | S262G, |
263 | 7 | V263I, |
264 | 11 | |
265 | 13 | A265V, |
266 | 11 | L266H, |
267 | 11 | |
270 | 15 | Q270K, |
395 | 15 | |
399 | 15 | |
1531 | 13 | |
1532 | 13 | V1532I, V1532F, |
1533 | 14 | T1533I, |
1534 | 11 | |
1535 | 7 | |
1536 | 11 | |
1537 | 11 | |
1538 | 6 | |
1539 | 7 | C1539F, C1539Y, |
1540 | 11 | |
1541 | 9 | |
1542 | 6 | |
1543 | 11 | V1543A, V1543L, |
1544 | 13 | T1544P, |
1545 | 11 | |
1546 | 12 | M1546T, |
1567 | 14 | F1567L, |
1571 | 13 | F1571C, |
1574 | 14 | c.4719C>T, E1574K, |
1589 | 14 | |
1590 | 13 | |
1591 | 9 | W1591X, |
1592 | 13 | |
1593 | 15 | I1593M, |
1594 | 11 | F1594S, |
1595 | 11 | |
1597 | 15 | V1597M, |
1598 | 13 | V1598A, |
1622 | 15 | |
1623 | 14 | R1623L, R1623X, R1623Q, c.4867delC, |
1624 | 11 | V1624I, |
1625 | 11 | |
1626 | 10 | R1626P, R1626H, R1626L, R1626C, |
1627 | 7 | |
1628 | 6 | |
1629 | 6 | R1629G, R1629X, R1629Q, |
1630 | 0 | I1630R, I1630V, |
1631 | 4 | G1631D, |
1632 | 6 | R1632L, R1632H, R1632C, |
1633 | 6 | |
1634 | 8 | L1634P, |
1635 | 10 | |
1636 | 10 | |
1637 | 12 | |
1647 | 14 |