E1060Q Summary

SCN5A E1060Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1060Q is not present in gnomAD. E1060Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1060A .E1060D .E1060D .E1060G .E1060K .E1060Q .E1060V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1060Q 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	0.429

E1060Q 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
1045	14.7	V1045M
1046	14.2
1047	13.7
1048	13.2
1049	12.6
1050	12	A1050T
1051	11.4
1052	10.7
1053	10.1	E1053K
1054	9.3
1055	8.5
1056	7.6
1057	6.6
1058	5.4
1059	3.8
1061	3.8	E1061D E1061D
1062	5.4
1063	6.6
1064	7.6	p.E1064del
1065	8.5
1066	9.3	S1066G
1067	10.1
1068	10.7	G1068D
1069	11.4	T1069M
1070	12
1071	12.6	E1071K
1072	13.2	p.E1072del
1073	13.7
1074	14.2
1075	14.7