E1078Q Summary

SCN5A E1078Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1078Q is not present in gnomAD. E1078Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1078A .E1078D .E1078D .E1078G .E1078K .E1078Q .E1078V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1078Q 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	0.431

E1078Q 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
1063	14.7
1064	14.2	p.E1064del
1065	13.7
1066	13.2	S1066G
1067	12.6
1068	12	G1068D
1069	11.4	T1069M
1070	10.7
1071	10.1	E1071K
1072	9.3	p.E1072del
1073	8.5
1074	7.6
1075	6.6
1076	5.4
1077	3.8
1079	3.8	S1079F S1079T
1080	5.4
1081	6.6
1082	7.6	V1082A
1083	8.5
1084	9.3	G1084S
1085	10.1
1086	10.7
1087	11.4
1088	12	A1088T
1089	12.6
1090	13.2	P1090L
1091	13.7
1092	14.2
1093	14.7