E1436K Summary
SCN5A E1436K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1436K is not present in gnomAD. E1436K has been functionally characterized in 0 papers. Other variants at the same resdue are E1436A .E1436D .E1436D .E1436G .E1436K .E1436Q .E1436V .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1436K 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 |
0.576 |
E1436K 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 |
739 |
14.4 |
|
1355 |
14.2 |
|
1356 |
14 |
|
1357 |
13.3 |
A1357V |
1358 |
10.4 |
|
1359 |
9.3 |
|
1360 |
12.7 |
|
1361 |
9.2 |
|
1362 |
11.6 |
|
1363 |
11.2 |
|
1364 |
14.9 |
|
1380 |
13.6 |
N1380K N1380K p.N1380del |
1381 |
14.2 |
|
1382 |
12.8 |
S1382I |
1383 |
11.5 |
|
1384 |
11.3 |
|
1385 |
13.3 |
|
1386 |
9.2 |
|
1387 |
6 |
|
1388 |
5.6 |
|
1389 |
9.4 |
|
1390 |
11.5 |
|
1391 |
13.8 |
G1391R G1391R |
1395 |
9.8 |
|
1396 |
14.3 |
|
1397 |
15 |
|
1427 |
13.8 |
|
1428 |
13.7 |
A1428S A1428V |
1429 |
13.9 |
|
1430 |
10.9 |
D1430N |
1431 |
8.9 |
|
1432 |
5.2 |
R1432S R1432S |
1433 |
5.1 |
G1433W |
1434 |
7.9 |
|
1435 |
5.3 |
|
1437 |
6.2 |
|
1438 |
7.4 |
|
1439 |
8.9 |
|
1442 |
10.6 |
|
1443 |
11.9 |
N1443S |