E1170D Summary

SCN5A E1170D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1170D is not present in gnomAD. E1170D has been functionally characterized in 0 papers. Other variants at the same resdue are E1170A .E1170D .E1170D .E1170G .E1170K .E1170Q .E1170V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1170D 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 0.539

E1170D 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
1155 14.7 P1155S
1156 14.2 D1156G
1157 13.7
1158 13.2 G1158S
1159 12.6
1160 12
1161 11.4
1162 10.7
1163 10.1
1164 9.3 P1164T
1165 8.5
1166 7.6
1167 6.6
1168 5.4
1169 3.8 T1169I
1171 3.8
1172 5.4
1173 6.6
1174 7.6 R1174W
1175 8.5 R1175H
1176 9.3
1177 10.1 P1177L
1178 10.7
1179 11.4
1180 12 A1180V
1181 12.6 V1181A V1181L V1181L
1182 13.2
1183 13.7
1184 14.2
1185 14.7