E1574D Summary
SCN5A E1574D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1574D is not present in gnomAD. E1574D has been functionally characterized in 0 papers. Other variants at the same resdue are E1574A .E1574D .E1574D .E1574G .E1574K .E1574Q .E1574V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1574D Predictions
PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.
| SIFT |
Sift Score |
PROVEAN Score |
Polyphen2 |
Polyphen2 Score |
eaRate |
blastPssm |
pamScore |
REVEL |
| NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
0.853 |
E1574D has 63 neighbors within 15 ångströms that have been found in individuals.
A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.
| ResidueNumber |
Distance(Å) |
Variants |
| 1521 |
11.2 |
|
| 1522 |
13.4 |
|
| 1523 |
14.7 |
D1523N |
| 1524 |
10.1 |
I1524T |
| 1525 |
8.8 |
V1525M |
| 1526 |
12.6 |
T1526P |
| 1527 |
12.3 |
|
| 1528 |
14.8 |
|
| 1529 |
11.9 |
|
| 1530 |
6.8 |
|
| 1531 |
8.9 |
|
| 1532 |
11.8 |
V1532F V1532I |
| 1533 |
9.9 |
T1533I |
| 1534 |
5.9 |
|
| 1535 |
9.4 |
|
| 1536 |
13.1 |
|
| 1537 |
9.5 |
|
| 1538 |
10.1 |
|
| 1539 |
13.7 |
C1539Y |
| 1540 |
14.2 |
|
| 1541 |
13 |
|
| 1566 |
12.7 |
|
| 1567 |
11.1 |
|
| 1568 |
9.5 |
|
| 1569 |
9 |
|
| 1570 |
7.1 |
p.1570_F1571insI p.I1570dup |
| 1571 |
5.3 |
|
| 1572 |
6.5 |
|
| 1573 |
4.8 |
|
| 1575 |
4.2 |
|
| 1576 |
7.2 |
|
| 1577 |
6.4 |
|
| 1578 |
5.1 |
|
| 1579 |
9.4 |
|
| 1580 |
11 |
|
| 1581 |
11.4 |
|
| 1582 |
11.4 |
|
| 1583 |
14.9 |
R1583C R1583H |
| 1586 |
9.3 |
|
| 1587 |
13.3 |
|
| 1589 |
12.5 |
|
| 1590 |
14 |
|
| 1591 |
12.6 |
|
| 1592 |
8.4 |
|
| 1593 |
12.2 |
I1593M |
| 1594 |
12.7 |
|
| 1595 |
7 |
|
| 1596 |
9.8 |
F1596I |
| 1597 |
12.2 |
V1597M |
| 1598 |
10.4 |
|
| 1599 |
8.6 |
|
| 1600 |
12.4 |
|
| 1601 |
14.8 |
L1601H |
| 1602 |
12.7 |
|
| 1603 |
13.9 |
|
| 1625 |
14.4 |
|
| 1626 |
13.1 |
R1626C R1626H R1626P |
| 1628 |
14.4 |
|
| 1629 |
8.9 |
R1629G R1629Q |
| 1630 |
14 |
|
| 1631 |
14.7 |
G1631D |
| 1632 |
10 |
R1632C R1632H |
| 1635 |
13.7 |
|