E1122D Summary

SCN5A E1122D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1122D is not present in gnomAD. E1122D has been functionally characterized in 0 papers. Other variants at the same resdue are E1122A .E1122D .E1122D .E1122G .E1122K .E1122Q .E1122V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1122D 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 0.488

E1122D 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
1107 14.7 E1107K
1108 14.2
1109 13.7 S1109G
1110 13.2
1111 12.6
1112 12
1113 11.4 A1113V
1114 10.7 D1114E D1114E D1114N
1115 10.1
1116 9.3 R1116Q R1116W
1117 8.5
1118 7.6
1119 6.6
1120 5.4
1121 3.8 A1121V
1123 3.8
1124 5.4
1125 6.6 A1125G A1125V
1126 7.6
1127 8.5
1128 9.3
1129 10.1 G1129S
1130 10.7
1131 11.4 T1131I
1132 12
1133 12.6
1134 13.2
1135 13.7 S1135I
1136 14.2
1137 14.7