E1781G Summary
SCN5A E1781G was found in 1 paper (see below) with a total of 3 carriers: 0 had BrS1, 3 had LQT3, and 0 had other disease. E1781G is not present in gnomAD. E1781G has been functionally characterized in 0 papers. Other variants at the same resdue are E1781A .E1781D .E1781D .E1781G .E1781K .E1781Q .E1781V .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
E1781G Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
27566755 | 2016 | 0 | 0 | 3 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
E1781G 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 |
Damaging |
0 |
-6.47 |
probablydamaging |
1 |
0.3332 |
-2.98 |
-4 |
0.921 |
E1781G has 60 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 |
414 |
13.2 |
|
1474 |
14.7 |
|
1477 |
13.6 |
|
1478 |
14.5 |
|
1481 |
14.1 |
|
1482 |
14.6 |
|
1488 |
13.5 |
|
1489 |
10.2 |
E1489D E1489D |
1490 |
10.9 |
|
1491 |
12.4 |
|
1492 |
8.8 |
|
1493 |
5.6 |
K1493R p.K1493del |
1494 |
11.2 |
|
1495 |
11.3 |
|
1496 |
6.9 |
|
1497 |
8.3 |
|
1498 |
12.4 |
M1498R M1498T |
1499 |
12.4 |
|
1500 |
8.6 |
|
1501 |
13.1 |
L1501V |
1503 |
14.7 |
|
1504 |
15 |
|
1641 |
13 |
|
1642 |
13.4 |
|
1644 |
13.9 |
R1644C R1644H |
1645 |
9.7 |
T1645M |
1646 |
12.7 |
|
1647 |
14.7 |
|
1648 |
9.9 |
|
1649 |
10.5 |
|
1650 |
14.5 |
|
1651 |
14.5 |
|
1652 |
10.5 |
|
1653 |
14.6 |
|
1772 |
14.8 |
|
1773 |
12.3 |
|
1774 |
10.2 |
|
1775 |
10.4 |
|
1776 |
8.5 |
|
1777 |
5.5 |
V1777M |
1778 |
4.6 |
|
1779 |
6.6 |
T1779M |
1780 |
6 |
|
1782 |
5.5 |
|
1783 |
6.9 |
|
1784 |
8.3 |
E1784K |
1785 |
5.2 |
|
1786 |
7 |
L1786Q |
1787 |
6.2 |
S1787N |
1788 |
9 |
|
1789 |
11.2 |
|
1790 |
10.1 |
D1790G D1790N |
1791 |
10.4 |
|
1792 |
13.7 |
D1792N |
1824 |
13.2 |
|
1825 |
14.6 |
L1825P |
1858 |
12.7 |
|
1861 |
12.8 |
|
1862 |
12 |
|
1865 |
13.4 |
|