E1130A Summary

SCN5A E1130A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1130A is not present in gnomAD. E1130A has been functionally characterized in 0 papers. Other variants at the same resdue are E1130A .E1130D .E1130D .E1130G .E1130K .E1130Q .E1130V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1130A 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 0.623

E1130A 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
1115 14.7
1116 14.2 R1116Q R1116W
1117 13.7
1118 13.2
1119 12.6
1120 12
1121 11.4 A1121V
1122 10.7
1123 10.1
1124 9.3
1125 8.5 A1125G A1125V
1126 7.6
1127 6.6
1128 5.4
1129 3.8 G1129S
1131 3.8 T1131I
1132 5.4
1133 6.6
1134 7.6
1135 8.5 S1135I
1136 9.3
1137 10.1
1138 10.7
1139 11.4
1140 12
1141 12.6
1142 13.2
1143 13.7
1144 14.2
1145 14.7