D1484E Summary
SCN5A D1484E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1484E is not present in gnomAD. D1484E has been functionally characterized in 0 papers. Other variants at the same resdue are D1484A .D1484E .D1484E .D1484G .D1484H .D1484N .D1484V .D1484Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
D1484E 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 |
0.663 |
D1484E has 25 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 |
| 943 |
14.7 |
|
| 944 |
14.8 |
|
| 1471 |
13.5 |
|
| 1472 |
13.6 |
p.N1472del |
| 1474 |
10.1 |
|
| 1475 |
7.2 |
|
| 1476 |
11.4 |
Q1476R |
| 1477 |
11.8 |
|
| 1478 |
5.8 |
|
| 1479 |
8.3 |
|
| 1480 |
12 |
|
| 1481 |
10 |
|
| 1482 |
7 |
|
| 1483 |
5.5 |
|
| 1485 |
5.4 |
|
| 1486 |
7.6 |
|
| 1487 |
5.5 |
M1487L M1487L |
| 1488 |
9.8 |
|
| 1489 |
10.1 |
E1489D E1489D |
| 1490 |
13.8 |
|
| 1491 |
11.9 |
|
| 1492 |
10.4 |
|
| 1493 |
14.8 |
K1493R p.K1493del |
| 1495 |
13.1 |
|
| 1496 |
15 |
|