E1385A Summary
SCN5A E1385A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1385A is not present in gnomAD. E1385A has been functionally characterized in 0 papers. Other variants at the same resdue are E1385A .E1385D .E1385D .E1385G .E1385K .E1385Q .E1385V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1385A 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 |
0.586 |
E1385A has 24 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 |
| 1362 |
14.6 |
|
| 1363 |
10 |
|
| 1364 |
13.4 |
|
| 1365 |
11.6 |
|
| 1379 |
12.3 |
|
| 1380 |
10.8 |
N1380K N1380K p.N1380del |
| 1381 |
6 |
|
| 1382 |
7.5 |
S1382I |
| 1383 |
7.2 |
|
| 1384 |
4.4 |
|
| 1386 |
5.4 |
|
| 1387 |
7.5 |
|
| 1388 |
10.2 |
|
| 1389 |
10.7 |
|
| 1390 |
6.9 |
|
| 1391 |
8.9 |
G1391R G1391R |
| 1392 |
13.1 |
|
| 1393 |
12.9 |
|
| 1394 |
14.4 |
|
| 1395 |
13.5 |
|
| 1436 |
13.3 |
|
| 1437 |
10.1 |
|
| 1438 |
13.3 |
|
| 1439 |
12.5 |
|