E1053G Summary

SCN5A E1053G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1053G is not present in gnomAD. E1053G has been functionally characterized in 0 papers. Other variants at the same resdue are E1053A .E1053D .E1053D .E1053G .E1053K .E1053Q .E1053V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1053G 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 0.873

E1053G 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
1038 14.7
1039 14.2
1040 13.7 G1040R G1040R
1041 13.2 D1041N
1042 12.6
1043 12
1044 11.4
1045 10.7 V1045M
1046 10.1
1047 9.3
1048 8.5
1049 7.6
1050 6.6 A1050T
1051 5.4
1052 3.8
1054 3.8
1055 5.4
1056 6.6
1057 7.6
1058 8.5
1059 9.3
1060 10.1
1061 10.7 E1061D E1061D
1062 11.4
1063 12
1064 12.6 p.E1064del
1065 13.2
1066 13.7 S1066G
1067 14.2
1068 14.7 G1068D