E1436K Summary

SCN5A E1436K was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1436K is not present in gnomAD. E1436K has been functionally characterized in 0 papers. Other variants at the same resdue are E1436A .E1436D .E1436D .E1436G .E1436K .E1436Q .E1436V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1436K 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	0.576

E1436K has 40 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
739	14.4
1355	14.2
1356	14
1357	13.3	A1357V
1358	10.4
1359	9.3
1360	12.7
1361	9.2
1362	11.6
1363	11.2
1364	14.9
1380	13.6	N1380K N1380K p.N1380del
1381	14.2
1382	12.8	S1382I
1383	11.5
1384	11.3
1385	13.3
1386	9.2
1387	6
1388	5.6
1389	9.4
1390	11.5
1391	13.8	G1391R G1391R
1395	9.8
1396	14.3
1397	15
1427	13.8
1428	13.7	A1428S A1428V
1429	13.9
1430	10.9	D1430N
1431	8.9
1432	5.2	R1432S R1432S
1433	5.1	G1433W
1434	7.9
1435	5.3
1437	6.2
1438	7.4
1439	8.9
1442	10.6
1443	11.9	N1443S