E1071Q Summary

SCN5A E1071Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1071Q is not present in gnomAD. E1071Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1071A .E1071D .E1071D .E1071G .E1071K .E1071Q .E1071V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1071Q 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	0.318

E1071Q 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
1056	14.7
1057	14.2
1058	13.7
1059	13.2
1060	12.6
1061	12	E1061D E1061D
1062	11.4
1063	10.7
1064	10.1	p.E1064del
1065	9.3
1066	8.5	S1066G
1067	7.6
1068	6.6	G1068D
1069	5.4	T1069M
1070	3.8
1072	3.8	p.E1072del
1073	5.4
1074	6.6
1075	7.6
1076	8.5
1077	9.3
1078	10.1
1079	10.7	S1079F S1079T
1080	11.4
1081	12
1082	12.6	V1082A
1083	13.2
1084	13.7	G1084S
1085	14.2
1086	14.7