E1078Q Summary

SCN5A E1078Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1078Q is not present in gnomAD. E1078Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1078A .E1078D .E1078D .E1078G .E1078K .E1078Q .E1078V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1078Q 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 0.431

E1078Q 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
1063 14.7
1064 14.2 p.E1064del
1065 13.7
1066 13.2 S1066G
1067 12.6
1068 12 G1068D
1069 11.4 T1069M
1070 10.7
1071 10.1 E1071K
1072 9.3 p.E1072del
1073 8.5
1074 7.6
1075 6.6
1076 5.4
1077 3.8
1079 3.8 S1079F S1079T
1080 5.4
1081 6.6
1082 7.6 V1082A
1083 8.5
1084 9.3 G1084S
1085 10.1
1086 10.7
1087 11.4
1088 12 A1088T
1089 12.6
1090 13.2 P1090L
1091 13.7
1092 14.2
1093 14.7