D1156E Summary

SCN5A D1156E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1156E is not present in gnomAD. D1156E has been functionally characterized in 0 papers. Other variants at the same resdue are D1156A .D1156E .D1156E .D1156G .D1156H .D1156N .D1156V .D1156Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1156E 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 0.326

D1156E 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
1141 14.7
1142 14.2
1143 13.7
1144 13.2
1145 12.6
1146 12
1147 11.4 T1147N T1147S T1147S
1148 10.7 A1148T
1149 10.1
1150 9.3
1151 8.5
1152 7.6
1153 6.6 Q1153H Q1153H
1154 5.4 I1154N
1155 3.8 P1155S
1157 3.8
1158 5.4 G1158S
1159 6.6
1160 7.6
1161 8.5
1162 9.3
1163 10.1
1164 10.7 P1164T
1165 11.4
1166 12
1167 12.6
1168 13.2
1169 13.7 T1169I
1170 14.2
1171 14.7