E1043D Summary

SCN5A E1043D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1043D is not present in gnomAD. E1043D has been functionally characterized in 0 papers. Other variants at the same resdue are E1043A .E1043D .E1043D .E1043G .E1043K .E1043Q .E1043V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1043D 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 0.484

E1043D 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
1028 14.7
1029 14.2
1030 13.7
1031 13.2
1032 12.6 E1032K
1033 12 Q1033R
1034 11.4
1035 10.7
1036 10.1
1037 9.3
1038 8.5
1039 7.6
1040 6.6 G1040R G1040R
1041 5.4 D1041N
1042 3.8
1044 3.8
1045 5.4 V1045M
1046 6.6
1047 7.6
1048 8.5
1049 9.3
1050 10.1 A1050T
1051 10.7
1052 11.4
1053 12 E1053K
1054 12.6
1055 13.2
1056 13.7
1057 14.2
1058 14.7