E1149D Summary

SCN5A E1149D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1149D is not present in gnomAD. E1149D has been functionally characterized in 0 papers. Other variants at the same resdue are E1149A .E1149D .E1149D .E1149G .E1149K .E1149Q .E1149V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1149D 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 0.266

E1149D 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
1134 14.7
1135 14.2 S1135I
1136 13.7
1137 13.2
1138 12.6
1139 12
1140 11.4
1141 10.7
1142 10.1
1143 9.3
1144 8.5
1145 7.6
1146 6.6
1147 5.4 T1147N T1147S T1147S
1148 3.8 A1148T
1150 3.8
1151 5.4
1152 6.6
1153 7.6 Q1153H Q1153H
1154 8.5 I1154N
1155 9.3 P1155S
1156 10.1 D1156G
1157 10.7
1158 11.4 G1158S
1159 12
1160 12.6
1161 13.2
1162 13.7
1163 14.2
1164 14.7 P1164T