E1063D Summary

SCN5A E1063D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1063D is not present in gnomAD. E1063D has been functionally characterized in 0 papers. Other variants at the same resdue are E1063A .E1063D .E1063D .E1063G .E1063K .E1063Q .E1063V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1063D 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 0.2

E1063D 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
1048 14.7
1049 14.2
1050 13.7 A1050T
1051 13.2
1052 12.6
1053 12 E1053K
1054 11.4
1055 10.7
1056 10.1
1057 9.3
1058 8.5
1059 7.6
1060 6.6
1061 5.4 E1061D E1061D
1062 3.8
1064 3.8 p.E1064del
1065 5.4
1066 6.6 S1066G
1067 7.6
1068 8.5 G1068D
1069 9.3 T1069M
1070 10.1
1071 10.7 E1071K
1072 11.4 p.E1072del
1073 12
1074 12.6
1075 13.2
1076 13.7
1077 14.2
1078 14.7