D1160E Summary

SCN5A D1160E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1160E is not present in gnomAD. D1160E has been functionally characterized in 0 papers. Other variants at the same resdue are D1160A .D1160E .D1160E .D1160G .D1160H .D1160N .D1160V .D1160Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D1160E 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 0.435

D1160E 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
1145 14.7
1146 14.2
1147 13.7 T1147N T1147S T1147S
1148 13.2 A1148T
1149 12.6
1150 12
1151 11.4
1152 10.7
1153 10.1 Q1153H Q1153H
1154 9.3 I1154N
1155 8.5 P1155S
1156 7.6 D1156G
1157 6.6
1158 5.4 G1158S
1159 3.8
1161 3.8
1162 5.4
1163 6.6
1164 7.6 P1164T
1165 8.5
1166 9.3
1167 10.1
1168 10.7
1169 11.4 T1169I
1170 12
1171 12.6
1172 13.2
1173 13.7
1174 14.2 R1174W
1175 14.7 R1175H