In Silico Data
SCN5A Variant R1512Q Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-3.68 | 1 | 1.49 | 0.91 | 7 | 8 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
24613995 | 2014 | 1 | 0 | 0 | 1 | irritable bowel syndrome | |
LITERATURE, COHORT, AND GNOMAD: | - | 6 | 6 | 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) |
---|---|---|---|---|---|---|
24613995 | 2014 | HEK | 87 | 2.9 | 3 | 135 |
R1512Q has 34 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
1508 | 14 | |
1509 | 10 | P1509T, |
1510 | 8 | |
1511 | 6 | |
1512 | 0 | R1512Q, R1512L, R1512W, |
1513 | 5 | |
1514 | 7 | L1514M, |
1515 | 9 | c.4542+15G>A, N1515S, |
1516 | 13 | L1516sp, |
1517 | 12 | |
1518 | 8 | |
1519 | 6 | |
1520 | 9 | |
1521 | 9 | I1521T, I1521K, |
1522 | 5 | |
1523 | 7 | D1523N, |
1524 | 11 | I1524T, |
1525 | 11 | V1525M, V1525A, |
1526 | 10 | T1526P, |
1527 | 14 | K1527R, |
1577 | 13 | |
1578 | 14 | c.4732_4733dupAA, |
1579 | 14 | L1579fsX53, |
1580 | 11 | |
1581 | 8 | A1581S, |
1582 | 10 | L1582P, |
1583 | 11 | R1583H, R1583C, |
1584 | 15 | |
1585 | 12 | Y1585C, |
1799 | 13 | |
1800 | 14 | |
1802 | 15 | |
1803 | 11 | |
1804 | 12 |