E1490Q Summary
SCN5A E1490Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1490Q is not present in gnomAD. E1490Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1490A .E1490D .E1490D .E1490G .E1490K .E1490Q .E1490V .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
E1490Q 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 |
0.855 |
E1490Q has 40 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 |
421 |
13.4 |
|
1478 |
13.8 |
|
1482 |
14 |
|
1483 |
12.6 |
|
1484 |
13.8 |
|
1485 |
12.8 |
|
1486 |
8.9 |
|
1487 |
9.7 |
M1487L M1487L |
1488 |
4.6 |
|
1489 |
5.8 |
E1489D E1489D |
1491 |
6 |
|
1492 |
8.2 |
|
1493 |
5.5 |
K1493R p.K1493del |
1494 |
9.1 |
|
1495 |
11.8 |
|
1496 |
11.2 |
|
1497 |
12.4 |
|
1498 |
13.9 |
M1498R M1498T |
1776 |
13.9 |
|
1777 |
12.5 |
V1777M |
1778 |
14.1 |
|
1779 |
13.6 |
T1779M |
1780 |
9.3 |
|
1781 |
10.9 |
E1781G |
1782 |
12.9 |
|
1783 |
9.9 |
|
1784 |
7.1 |
E1784K |
1785 |
9.7 |
|
1786 |
13.9 |
L1786Q |
1861 |
14.7 |
|
1862 |
11.1 |
|
1863 |
14 |
|
1865 |
11.8 |
|
1866 |
11.8 |
|
1867 |
13.6 |
|
1868 |
8.4 |
|
1869 |
10.9 |
|
1870 |
14.7 |
A1870T |
1872 |
13.6 |
|
1874 |
12.7 |
|