E1780D Summary
SCN5A E1780D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1780D is not present in gnomAD. E1780D has been functionally characterized in 0 papers. Other variants at the same resdue are E1780A .E1780D .E1780D .E1780G .E1780K .E1780Q .E1780V .
This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
E1780D 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 |
0.768 |
E1780D has 52 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 |
| 249 |
13.9 |
|
| 410 |
12.2 |
|
| 411 |
12.8 |
V411M |
| 412 |
14.9 |
|
| 413 |
11.9 |
A413T |
| 414 |
8.7 |
|
| 415 |
12 |
|
| 417 |
10.5 |
|
| 418 |
10.1 |
|
| 420 |
14.8 |
|
| 421 |
11.5 |
|
| 422 |
14.5 |
|
| 1474 |
12.9 |
|
| 1477 |
14.3 |
|
| 1478 |
14.2 |
|
| 1487 |
13.7 |
M1487L M1487L |
| 1488 |
11.3 |
|
| 1489 |
7.8 |
E1489D E1489D |
| 1490 |
9.3 |
|
| 1491 |
13.2 |
|
| 1492 |
10.4 |
|
| 1493 |
6.6 |
K1493R p.K1493del |
| 1494 |
14.1 |
|
| 1495 |
14.7 |
|
| 1496 |
11.3 |
|
| 1497 |
13.3 |
|
| 1500 |
14.5 |
|
| 1642 |
13.8 |
|
| 1645 |
11.8 |
T1645M |
| 1646 |
13.3 |
|
| 1648 |
13.6 |
|
| 1649 |
12.6 |
|
| 1652 |
13.7 |
|
| 1772 |
12.6 |
|
| 1773 |
10.8 |
|
| 1774 |
11.1 |
|
| 1775 |
9 |
|
| 1776 |
5.9 |
|
| 1777 |
6 |
V1777M |
| 1778 |
6.2 |
|
| 1779 |
4.4 |
T1779M |
| 1781 |
6 |
E1781G |
| 1782 |
6.3 |
|
| 1783 |
5.3 |
|
| 1784 |
8.3 |
E1784K |
| 1785 |
8.1 |
|
| 1786 |
11.8 |
L1786Q |
| 1787 |
11.3 |
S1787N |
| 1788 |
14.6 |
|
| 1790 |
14.9 |
D1790G D1790N |
| 1862 |
14.3 |
|
| 1865 |
13.8 |
|