E1489K Summary
SCN5A E1489K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1489K is not present in gnomAD. E1489K has been functionally characterized in 0 papers. Other variants at the same resdue are E1489A .E1489D .E1489D .E1489G .E1489K .E1489Q .E1489V .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
E1489K 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 |
0.896 |
E1489K has 40 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 |
| 414 |
14.7 |
|
| 417 |
12.6 |
|
| 421 |
12.6 |
|
| 943 |
14.2 |
|
| 1471 |
13.8 |
|
| 1474 |
9.7 |
|
| 1475 |
12 |
|
| 1477 |
12 |
|
| 1478 |
8.7 |
|
| 1479 |
14.9 |
|
| 1481 |
12.2 |
|
| 1482 |
10.5 |
|
| 1483 |
10.2 |
|
| 1484 |
10.1 |
|
| 1485 |
11.4 |
|
| 1486 |
8.8 |
|
| 1487 |
6.1 |
M1487L M1487L |
| 1488 |
4.5 |
|
| 1490 |
5.8 |
|
| 1491 |
8.2 |
|
| 1492 |
6.3 |
|
| 1493 |
6.4 |
K1493R p.K1493del |
| 1494 |
12 |
|
| 1495 |
11.4 |
|
| 1496 |
10.4 |
|
| 1497 |
13.6 |
|
| 1773 |
11.6 |
|
| 1774 |
13.7 |
|
| 1775 |
14.6 |
|
| 1776 |
10 |
|
| 1777 |
9.1 |
V1777M |
| 1778 |
12.1 |
|
| 1779 |
11.8 |
T1779M |
| 1780 |
7.8 |
|
| 1781 |
10.2 |
E1781G |
| 1782 |
13.3 |
|
| 1783 |
11.4 |
|
| 1784 |
10.9 |
E1784K |
| 1785 |
11.8 |
|
| 1868 |
14.2 |
|