E1030A Summary

SCN5A E1030A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1030A is not present in gnomAD. E1030A has been functionally characterized in 0 papers. Other variants at the same resdue are E1030A .E1030D .E1030D .E1030G .E1030K .E1030Q .E1030V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1030A 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	0.55

E1030A 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
1015	14.7
1016	14.2	T1016M
1017	13.7
1018	13.2
1019	12.6
1020	12
1021	11.4	P1021S
1022	10.7
1023	10.1	R1023C R1023H R1023P
1024	9.3
1025	8.5
1026	7.6
1027	6.6	R1027Q
1028	5.4
1029	3.8
1031	3.8
1032	5.4	E1032K
1033	6.6	Q1033R
1034	7.6
1035	8.5
1036	9.3
1037	10.1
1038	10.7
1039	11.4
1040	12	G1040R G1040R
1041	12.6	D1041N
1042	13.2
1043	13.7
1044	14.2
1045	14.7	V1045M