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
1584047620050010
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