E1064D Summary

SCN5A E1064D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1064D is not present in gnomAD. E1064D has been functionally characterized in 0 papers. Other variants at the same resdue are E1064A .E1064D .E1064D .E1064G .E1064K .E1064Q .E1064V .p.E1064del . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1064D 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	0.11

E1064D 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
1049	14.7
1050	14.2	A1050T
1051	13.7
1052	13.2
1053	12.6	E1053K
1054	12
1055	11.4
1056	10.7
1057	10.1
1058	9.3
1059	8.5
1060	7.6
1061	6.6	E1061D E1061D
1062	5.4
1063	3.8
1065	3.8
1066	5.4	S1066G
1067	6.6
1068	7.6	G1068D
1069	8.5	T1069M
1070	9.3
1071	10.1	E1071K
1072	10.7	p.E1072del
1073	11.4
1074	12
1075	12.6
1076	13.2
1077	13.7
1078	14.2
1079	14.7	S1079F S1079T