E1133G Summary

SCN5A E1133G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1133G is not present in gnomAD. E1133G has been functionally characterized in 0 papers. Other variants at the same resdue are E1133A .E1133D .E1133D .E1133G .E1133K .E1133Q .E1133V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1133G 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 0.544

E1133G 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
1118 14.7
1119 14.2
1120 13.7
1121 13.2 A1121V
1122 12.6
1123 12
1124 11.4
1125 10.7 A1125G A1125V
1126 10.1
1127 9.3
1128 8.5
1129 7.6 G1129S
1130 6.6
1131 5.4 T1131I
1132 3.8
1134 3.8
1135 5.4 S1135I
1136 6.6
1137 7.6
1138 8.5
1139 9.3
1140 10.1
1141 10.7
1142 11.4
1143 12
1144 12.6
1145 13.2
1146 13.7
1147 14.2 T1147N T1147S T1147S
1148 14.7 A1148T