D1041E Summary

SCN5A D1041E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1041E is not present in gnomAD. D1041E has been functionally characterized in 0 papers. Other variants at the same resdue are D1041A .D1041E .D1041E .D1041G .D1041H .D1041N .D1041V .D1041Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1041E 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	0.432

D1041E 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
1026	14.7
1027	14.2	R1027Q
1028	13.7
1029	13.2
1030	12.6
1031	12
1032	11.4	E1032K
1033	10.7	Q1033R
1034	10.1
1035	9.3
1036	8.5
1037	7.6
1038	6.6
1039	5.4
1040	3.8	G1040R G1040R
1042	3.8
1043	5.4
1044	6.6
1045	7.6	V1045M
1046	8.5
1047	9.3
1048	10.1
1049	10.7
1050	11.4	A1050T
1051	12
1052	12.6
1053	13.2	E1053K
1054	13.7
1055	14.2
1056	14.7