E1030Q Summary

SCN5A E1030Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1030Q is not present in gnomAD. E1030Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1030A .E1030D .E1030D .E1030G .E1030K .E1030Q .E1030V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1030Q 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 0.386

E1030Q 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
1015 14.7
1016 14.2 T1016M
1017 13.7
1018 13.2
1019 12.6
1020 12
1021 11.4 P1021S
1022 10.7
1023 10.1 R1023C R1023H R1023P
1024 9.3
1025 8.5
1026 7.6
1027 6.6 R1027Q
1028 5.4
1029 3.8
1031 3.8
1032 5.4 E1032K
1033 6.6 Q1033R
1034 7.6
1035 8.5
1036 9.3
1037 10.1
1038 10.7
1039 11.4
1040 12 G1040R G1040R
1041 12.6 D1041N
1042 13.2
1043 13.7
1044 14.2
1045 14.7 V1045M