E1170G Summary

SCN5A E1170G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1170G is not present in gnomAD. E1170G has been functionally characterized in 0 papers. Other variants at the same resdue are E1170A .E1170D .E1170D .E1170G .E1170K .E1170Q .E1170V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1170G 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	0.757

E1170G 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
1155	14.7	P1155S
1156	14.2	D1156G
1157	13.7
1158	13.2	G1158S
1159	12.6
1160	12
1161	11.4
1162	10.7
1163	10.1
1164	9.3	P1164T
1165	8.5
1166	7.6
1167	6.6
1168	5.4
1169	3.8	T1169I
1171	3.8
1172	5.4
1173	6.6
1174	7.6	R1174W
1175	8.5	R1175H
1176	9.3
1177	10.1	P1177L
1178	10.7
1179	11.4
1180	12	A1180V
1181	12.6	V1181A V1181L V1181L
1182	13.2
1183	13.7
1184	14.2
1185	14.7