E1231K Summary
SCN5A E1231K was found in 1 paper (see below) with a total of 4 carriers: 0 had BrS1, 1 had LQT3, and 0 had other disease. E1231K is present in 3 out of 250008 alleles in gnomAD (minor allele frequency of 0.0012%). E1231K 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.
E1231K Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
15840476 | 2005 | 0 | 0 | 1 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
E1231K 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 |
Tolerated |
0.107 |
-1.06 |
benign |
0.037 |
2.162 |
0.8 |
-4 |
0.549 |
E1231K 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 |
|