D1055E Summary

SCN5A D1055E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1055E is not present in gnomAD. D1055E has been functionally characterized in 0 papers. Other variants at the same resdue are D1055A .D1055E .D1055E .D1055G .D1055H .D1055N .D1055V .D1055Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1055E 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	0.608

D1055E 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
1040	14.7	G1040R G1040R
1041	14.2	D1041N
1042	13.7
1043	13.2
1044	12.6
1045	12	V1045M
1046	11.4
1047	10.7
1048	10.1
1049	9.3
1050	8.5	A1050T
1051	7.6
1052	6.6
1053	5.4	E1053K
1054	3.8
1056	3.8
1057	5.4
1058	6.6
1059	7.6
1060	8.5
1061	9.3	E1061D E1061D
1062	10.1
1063	10.7
1064	11.4	p.E1064del
1065	12
1066	12.6	S1066G
1067	13.2
1068	13.7	G1068D
1069	14.2	T1069M
1070	14.7