E1072Q Summary

SCN5A E1072Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1072Q is not present in gnomAD. E1072Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1072A .E1072D .E1072D .E1072G .E1072K .E1072Q .E1072V .p.E1072del . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1072Q 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 0.42

E1072Q 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
1057 14.7
1058 14.2
1059 13.7
1060 13.2
1061 12.6 E1061D E1061D
1062 12
1063 11.4
1064 10.7 p.E1064del
1065 10.1
1066 9.3 S1066G
1067 8.5
1068 7.6 G1068D
1069 6.6 T1069M
1070 5.4
1071 3.8 E1071K
1073 3.8
1074 5.4
1075 6.6
1076 7.6
1077 8.5
1078 9.3
1079 10.1 S1079F S1079T
1080 10.7
1081 11.4
1082 12 V1082A
1083 12.6
1084 13.2 G1084S
1085 13.7
1086 14.2
1087 14.7