E1070D Summary

SCN5A E1070D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1070D is not present in gnomAD. E1070D has been functionally characterized in 0 papers. Other variants at the same resdue are E1070A .E1070D .E1070D .E1070G .E1070K .E1070Q .E1070V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1070D 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 0.294

E1070D 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
1055 14.7
1056 14.2
1057 13.7
1058 13.2
1059 12.6
1060 12
1061 11.4 E1061D E1061D
1062 10.7
1063 10.1
1064 9.3 p.E1064del
1065 8.5
1066 7.6 S1066G
1067 6.6
1068 5.4 G1068D
1069 3.8 T1069M
1071 3.8 E1071K
1072 5.4 p.E1072del
1073 6.6
1074 7.6
1075 8.5
1076 9.3
1077 10.1
1078 10.7
1079 11.4 S1079F S1079T
1080 12
1081 12.6
1082 13.2 V1082A
1083 13.7
1084 14.2 G1084S
1085 14.7