E1017A Summary

SCN5A E1017A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1017A is not present in gnomAD. E1017A has been functionally characterized in 0 papers. Other variants at the same resdue are E1017A .E1017D .E1017D .E1017G .E1017K .E1017Q .E1017V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1017A 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	0.382

E1017A 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
1002	14.7	P1002S
1003	14.2
1004	13.7	C1004R
1005	13.2
1006	12.6
1007	12
1008	11.4	P1008S
1009	10.7
1010	10.1
1011	9.3	P1011L P1011S
1012	8.5
1013	7.6
1014	6.6	P1014S
1015	5.4
1016	3.8	T1016M
1018	3.8
1019	5.4
1020	6.6
1021	7.6	P1021S
1022	8.5
1023	9.3	R1023C R1023H R1023P
1024	10.1
1025	10.7
1026	11.4
1027	12	R1027Q
1028	12.6
1029	13.2
1030	13.7
1031	14.2
1032	14.7	E1032K