E1784G Summary
SCN5A E1784G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1784G is not present in gnomAD. E1784G has been functionally characterized in 0 papers. Other variants at the same resdue are E1784A .E1784D .E1784D .E1784G .E1784K .E1784Q .E1784V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
E1784G 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 |
0.91 |
E1784G has 43 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 |
| 1488 |
11.6 |
|
| 1489 |
10.9 |
E1489D E1489D |
| 1490 |
7.1 |
|
| 1491 |
10.5 |
|
| 1492 |
11.4 |
|
| 1493 |
5.9 |
K1493R p.K1493del |
| 1494 |
9.5 |
|
| 1495 |
13.8 |
|
| 1496 |
11.4 |
|
| 1497 |
10.5 |
|
| 1498 |
13.2 |
M1498R M1498T |
| 1500 |
13.5 |
|
| 1501 |
15 |
L1501V |
| 1776 |
14 |
|
| 1777 |
12.4 |
V1777M |
| 1778 |
11.8 |
|
| 1779 |
11.2 |
T1779M |
| 1780 |
8.3 |
|
| 1781 |
8.3 |
E1781G |
| 1782 |
7.9 |
|
| 1783 |
5.1 |
|
| 1785 |
4.3 |
|
| 1786 |
8.5 |
L1786Q |
| 1787 |
11.2 |
S1787N |
| 1790 |
12.9 |
D1790G D1790N |
| 1791 |
14 |
|
| 1823 |
14.6 |
E1823K |
| 1824 |
11 |
|
| 1825 |
13.6 |
L1825P |
| 1858 |
11 |
|
| 1859 |
12.3 |
|
| 1860 |
13.7 |
|
| 1861 |
8.6 |
|
| 1862 |
6.4 |
|
| 1863 |
9.4 |
|
| 1864 |
10.8 |
|
| 1865 |
6 |
|
| 1866 |
7.9 |
|
| 1867 |
11.4 |
|
| 1868 |
8 |
|
| 1869 |
12.6 |
|
| 1870 |
14.8 |
A1870T |
| 1874 |
14.5 |
|