In Silico Data
SCN5A Variant T1526P Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-4.59 | 0.972 | -3.58 | 0.724 | 19 | 5 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
27287068 | 2016 | 3 | 0 | 0 | 1 | hearing loss | |
LITERATURE, COHORT, AND GNOMAD: | - | 2 | 2 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 14 | 0 | 1 | - | - |
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) |
---|---|---|---|---|---|---|
27287068 | 2016 | Oocytes | 110 |
T1526P has 46 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
1507 | 15 | p.Q1507_P1509del, |
1509 | 12 | P1509T, |
1510 | 9 | |
1511 | 12 | |
1512 | 10 | R1512L, R1512W, R1512Q, |
1513 | 12 | |
1518 | 13 | |
1519 | 10 | |
1520 | 11 | |
1521 | 9 | I1521K, I1521T, |
1522 | 5 | |
1523 | 5 | D1523N, |
1524 | 6 | I1524T, |
1525 | 4 | V1525A, V1525M, |
1526 | 0 | T1526P, |
1527 | 6 | K1527R, |
1528 | 8 | |
1529 | 9 | |
1530 | 8 | |
1531 | 8 | |
1532 | 12 | V1532F, V1532I, |
1533 | 13 | T1533I, |
1534 | 13 | |
1535 | 14 | |
1573 | 15 | |
1574 | 13 | E1574K, c.4719C>T, |
1575 | 14 | C1575S, |
1576 | 14 | |
1577 | 10 | |
1578 | 9 | c.4732_4733dupAA, |
1579 | 14 | L1579fsX53, |
1580 | 12 | |
1581 | 9 | A1581S, |
1582 | 10 | L1582P, |
1583 | 14 | R1583H, R1583C, |
1585 | 13 | Y1585C, |
1586 | 13 | |
1589 | 14 | |
1592 | 13 | |
1635 | 13 | |
1636 | 15 | |
1796 | 13 | |
1797 | 15 | I1797V, |
1799 | 12 | |
1800 | 11 | |
1803 | 14 |