E1025A Summary

SCN5A E1025A was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1025A is present in 1 out of 248116 alleles in gnomAD (minor allele frequency of 0.000403%). E1025A has been functionally characterized in 0 papers. Other variants at the same resdue are E1025A .E1025D .E1025D .E1025G .E1025K .E1025Q .E1025V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1025A 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
Tolerated	0.418	-0.94	benign	0.061	3.75	-1.45	-2	0.414

E1025A 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
1010	14.7
1011	14.2	P1011L P1011S
1012	13.7
1013	13.2
1014	12.6	P1014S
1015	12
1016	11.4	T1016M
1017	10.7
1018	10.1
1019	9.3
1020	8.5
1021	7.6	P1021S
1022	6.6
1023	5.4	R1023C R1023H R1023P
1024	3.8
1026	3.8
1027	5.4	R1027Q
1028	6.6
1029	7.6
1030	8.5
1031	9.3
1032	10.1	E1032K
1033	10.7	Q1033R
1034	11.4
1035	12
1036	12.6
1037	13.2
1038	13.7
1039	14.2
1040	14.7	G1040R G1040R