E1149G Summary

SCN5A E1149G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1149G is not present in gnomAD. E1149G has been functionally characterized in 0 papers. Other variants at the same resdue are E1149A .E1149D .E1149D .E1149G .E1149K .E1149Q .E1149V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1149G 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	0.413

E1149G 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
1134	14.7
1135	14.2	S1135I
1136	13.7
1137	13.2
1138	12.6
1139	12
1140	11.4
1141	10.7
1142	10.1
1143	9.3
1144	8.5
1145	7.6
1146	6.6
1147	5.4	T1147N T1147S T1147S
1148	3.8	A1148T
1150	3.8
1151	5.4
1152	6.6
1153	7.6	Q1153H Q1153H
1154	8.5	I1154N
1155	9.3	P1155S
1156	10.1	D1156G
1157	10.7
1158	11.4	G1158S
1159	12
1160	12.6
1161	13.2
1162	13.7
1163	14.2
1164	14.7	P1164T