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