E1130Q Summary

SCN5A E1130Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1130Q is not present in gnomAD. E1130Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1130A .E1130D .E1130D .E1130G .E1130K .E1130Q .E1130V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1130Q 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	0.548

E1130Q 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
1115	14.7
1116	14.2	R1116Q R1116W
1117	13.7
1118	13.2
1119	12.6
1120	12
1121	11.4	A1121V
1122	10.7
1123	10.1
1124	9.3
1125	8.5	A1125G A1125V
1126	7.6
1127	6.6
1128	5.4
1129	3.8	G1129S
1131	3.8	T1131I
1132	5.4
1133	6.6
1134	7.6
1135	8.5	S1135I
1136	9.3
1137	10.1
1138	10.7
1139	11.4
1140	12
1141	12.6
1142	13.2
1143	13.7
1144	14.2
1145	14.7