E1318Q Summary
SCN5A E1318Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1318Q is not present in gnomAD. E1318Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1318A .E1318D .E1318D .E1318G .E1318K .E1318Q .E1318V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
E1318Q 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 |
0.801 |
E1318Q has 32 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 |
1312 |
12.7 |
|
1313 |
11.6 |
|
1314 |
10.3 |
|
1315 |
9.6 |
|
1316 |
9.1 |
R1316Q |
1317 |
4.9 |
F1317C |
1319 |
4.4 |
G1319V |
1320 |
7.7 |
M1320I M1320I M1320I |
1321 |
5.5 |
|
1322 |
8.4 |
|
1323 |
10.4 |
|
1324 |
11.6 |
|
1325 |
12.1 |
N1325S |
1326 |
14.6 |
|
1476 |
13 |
Q1476R |
1477 |
13.1 |
|
1479 |
15 |
|
1480 |
10.1 |
|
1481 |
13.5 |
|
1652 |
14.5 |
|
1653 |
13.5 |
|
1654 |
13.7 |
|
1655 |
9.2 |
|
1656 |
9.5 |
|
1657 |
13.3 |
|
1658 |
12.2 |
|
1659 |
8.6 |
|
1660 |
13.1 |
I1660V |
1661 |
14.5 |
G1661R G1661R |
1662 |
12.3 |
|
1663 |
14.5 |
|
1770 |
14.4 |
|