E1152Q Summary

SCN5A E1152Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1152Q is not present in gnomAD. E1152Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1152A .E1152D .E1152D .E1152G .E1152K .E1152Q .E1152V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1152Q 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 0.547

E1152Q 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
1137 14.7
1138 14.2
1139 13.7
1140 13.2
1141 12.6
1142 12
1143 11.4
1144 10.7
1145 10.1
1146 9.3
1147 8.5 T1147N T1147S T1147S
1148 7.6 A1148T
1149 6.6
1150 5.4
1151 3.8
1153 3.8 Q1153H Q1153H
1154 5.4 I1154N
1155 6.6 P1155S
1156 7.6 D1156G
1157 8.5
1158 9.3 G1158S
1159 10.1
1160 10.7
1161 11.4
1162 12
1163 12.6
1164 13.2 P1164T
1165 13.7
1166 14.2
1167 14.7