E1165D Summary

SCN5A E1165D was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1165D is present in 1 out of 240876 alleles in gnomAD (minor allele frequency of 0.000415%). E1165D has been functionally characterized in 0 papers. Other variants at the same resdue are E1165A .E1165D .E1165D .E1165G .E1165K .E1165Q .E1165V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1165D 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	0.363	-1.6	benign	0.013	1.825	1.29	2	0.249

E1165D 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
1150	14.7
1151	14.2
1152	13.7
1153	13.2	Q1153H Q1153H
1154	12.6	I1154N
1155	12	P1155S
1156	11.4	D1156G
1157	10.7
1158	10.1	G1158S
1159	9.3
1160	8.5
1161	7.6
1162	6.6
1163	5.4
1164	3.8	P1164T
1166	3.8
1167	5.4
1168	6.6
1169	7.6	T1169I
1170	8.5
1171	9.3
1172	10.1
1173	10.7
1174	11.4	R1174W
1175	12	R1175H
1176	12.6
1177	13.2	P1177L
1178	13.7
1179	14.2
1180	14.7	A1180V