E1165D Summary

SCN5A E1165D was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1165D is present in 1 out of 240876 alleles in gnomAD (minor allele frequency of 0.000415%). E1165D has been functionally characterized in 0 papers. Other variants at the same resdue are E1165A .E1165D .E1165D .E1165G .E1165K .E1165Q .E1165V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1165D 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
Tolerated 0.363 -1.6 benign 0.013 1.825 1.29 2 0.249

E1165D 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
1150 14.7
1151 14.2
1152 13.7
1153 13.2 Q1153H Q1153H
1154 12.6 I1154N
1155 12 P1155S
1156 11.4 D1156G
1157 10.7
1158 10.1 G1158S
1159 9.3
1160 8.5
1161 7.6
1162 6.6
1163 5.4
1164 3.8 P1164T
1166 3.8
1167 5.4
1168 6.6
1169 7.6 T1169I
1170 8.5
1171 9.3
1172 10.1
1173 10.7
1174 11.4 R1174W
1175 12 R1175H
1176 12.6
1177 13.2 P1177L
1178 13.7
1179 14.2
1180 14.7 A1180V