E1368K Summary

SCN5A E1368K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1368K is not present in gnomAD. E1368K has been functionally characterized in 0 papers. Other variants at the same resdue are E1368A .E1368D .E1368D .E1368G .E1368K .E1368Q .E1368V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1368K 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	0.631

E1368K has 30 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
1353	14.7	V1353M
1354	14.2
1355	13.7
1356	13.2
1357	12.6	A1357V
1358	12
1359	11.4
1360	10.7
1361	10.1
1362	9.3
1363	8.5
1364	7.6
1365	6.6
1366	5.4
1367	3.8
1369	3.8
1370	5.4	D1370G
1371	6.6
1372	7.6
1373	8.5
1374	9.3
1375	10.1
1376	10.7
1377	11.4
1378	12	V1378M
1379	12.6
1380	13.2	N1380K N1380K p.N1380del
1381	13.7
1382	14.2	S1382I
1383	14.7