E1231Q Summary
SCN5A E1231Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1231Q is not present in gnomAD. E1231Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1231A .E1231D .E1231D .E1231G .E1231K .E1231Q .E1231V .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
E1231Q 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 |
0.539 |
E1231Q has 21 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 |
| 331 |
14.9 |
|
| 1223 |
14.6 |
|
| 1224 |
12.1 |
|
| 1225 |
11.5 |
E1225K |
| 1226 |
11.2 |
|
| 1227 |
8.4 |
|
| 1228 |
5.7 |
Y1228C Y1228H |
| 1229 |
7 |
|
| 1230 |
5.8 |
E1230K |
| 1232 |
5.7 |
R1232Q R1232W |
| 1233 |
8.1 |
|
| 1234 |
9.6 |
|
| 1235 |
9.1 |
|
| 1236 |
10.1 |
K1236R |
| 1237 |
13.3 |
|
| 1238 |
14.2 |
|
| 1239 |
13.6 |
L1239P |
| 1681 |
12.7 |
Y1681F |
| 1695 |
12 |
|
| 1696 |
12.3 |
|
| 1697 |
14.5 |
|