E1138V Summary

SCN5A E1138V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1138V is not present in gnomAD. E1138V has been functionally characterized in 0 papers. Other variants at the same resdue are E1138A .E1138D .E1138D .E1138G .E1138K .E1138Q .E1138V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1138V 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	0.819

E1138V 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
1123	14.7
1124	14.2
1125	13.7	A1125G A1125V
1126	13.2
1127	12.6
1128	12
1129	11.4	G1129S
1130	10.7
1131	10.1	T1131I
1132	9.3
1133	8.5
1134	7.6
1135	6.6	S1135I
1136	5.4
1137	3.8
1139	3.8
1140	5.4
1141	6.6
1142	7.6
1143	8.5
1144	9.3
1145	10.1
1146	10.7
1147	11.4	T1147N T1147S T1147S
1148	12	A1148T
1149	12.6
1150	13.2
1151	13.7
1152	14.2
1153	14.7	Q1153H Q1153H