E1039Q Summary

KCNH2 E1039Q was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E1039Q is not present in gnomAD. E1039Q has been functionally characterized in 0 papers. This residue is located in a Non_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.

E1039Q Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

E1039Q 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.

PAM Score REVEL Score PROVEAN Score Polyphen2 Score BLAST-PSSM
NA 0.528 -1.763 0.079 0

E1039Q has 30 neighbors (found in individuals) within 15 ångströms

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. NOTE: some residues appear multiple times at different distances. This results from the fact that the functional Kv11.1 channel is a homotetramer and occasionally the same residue from multiple subunits is present within the 15A window. All variants shown in the rightmost column have been observed in at least one individual in the literature or gnomAD.

ResidueNumber Distance(Å) Variants
1024 14.7
1025 14.2
1026 13.7 P1026R
1027 13.2 L1027I
1028 12.6 S1028Del
1029 12 S1029fsX
1030 11.4 P1030L P1030X
1031 10.7 G1031C G1031fsX G1031X
1032 10.1 R1032fsX R1032P R1032Q R1032W R1032X
1033 9.3 R1033fsX R1033Q R1033W R1033X
1034 8.5 P1034fsX P1034X
1035 7.6 R1035fsX R1035Q R1035W R1035X
1036 6.6 G1036D G1036Del G1036fsX G1036X
1037 5.4 D1037E D1037fsX D1037N D1037X
1038 3.8 V1038fsX V1038L V1038M V1038X
1040 3.8
1041 5.4
1042 6.6
1043 7.6 D1043G
1044 8.5
1045 9.3 L1045F
1046 10.1 Q1046X
1047 10.7 R1047C R1047H R1047L
1048 11.4
1049 12
1050 12.6
1051 13.2
1052 13.7
1053 14.2 E1053fsX E1053X
1054 14.7 T1054fsX