E1043K Summary

SCN5A E1043K was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1043K is present in 1 out of 248866 alleles in gnomAD (minor allele frequency of 0.000402%). E1043K has been functionally characterized in 0 papers. Other variants at the same resdue are E1043A .E1043D .E1043D .E1043G .E1043K .E1043Q .E1043V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1043K 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	0.366	-1.53	probablydamaging	0.999	3.231	1.43	-4	0.485

E1043K 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
1028	14.7
1029	14.2
1030	13.7
1031	13.2
1032	12.6	E1032K
1033	12	Q1033R
1034	11.4
1035	10.7
1036	10.1
1037	9.3
1038	8.5
1039	7.6
1040	6.6	G1040R G1040R
1041	5.4	D1041N
1042	3.8
1044	3.8
1045	5.4	V1045M
1046	6.6
1047	7.6
1048	8.5
1049	9.3
1050	10.1	A1050T
1051	10.7
1052	11.4
1053	12	E1053K
1054	12.6
1055	13.2
1056	13.7
1057	14.2
1058	14.7