D1182E Summary

SCN5A D1182E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1182E is not present in gnomAD. D1182E has been functionally characterized in 0 papers. Other variants at the same resdue are D1182A .D1182E .D1182E .D1182G .D1182H .D1182N .D1182V .D1182Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1182E 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 0.681

D1182E 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
1167 14.7
1168 14.2
1169 13.7 T1169I
1170 13.2
1171 12.6
1172 12
1173 11.4
1174 10.7 R1174W
1175 10.1 R1175H
1176 9.3
1177 8.5 P1177L
1178 7.6
1179 6.6
1180 5.4 A1180V
1181 3.8 V1181A V1181L V1181L
1183 3.8
1184 5.4
1185 6.6
1186 7.6 A1186T
1187 8.5 P1187Q
1188 9.3
1189 10.1
1190 10.7 V1190F
1191 11.4
1192 12
1193 12.6 R1193Q R1193W
1194 13.2
1195 13.7 R1195H
1196 14.2
1197 14.7