D1037E Summary

KCNH2 D1037E was found in 0 papers (see below) with a total of 3 carriers: 0 had LQT2. D1037E is present in 3 out of 144620 alleles in gnomAD (0.002074%). D1037E 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.


D1037E 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.

D1037E 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
2 0.505 0.306 0.007 6

D1037E 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
1022 14.7
1023 14.2 L1023Del L1023P
1024 13.7
1025 13.2
1026 12.6 P1026R
1027 12 L1027I
1028 11.4 S1028Del
1029 10.7 S1029fsX
1030 10.1 P1030L P1030X
1031 9.3 G1031C G1031fsX G1031X
1032 8.5 R1032fsX R1032P R1032Q R1032W R1032X
1033 7.6 R1033fsX R1033Q R1033W R1033X
1034 6.6 P1034fsX P1034X
1035 5.4 R1035fsX R1035Q R1035W R1035X
1036 3.8 G1036D G1036Del G1036fsX G1036X
1038 3.8 V1038fsX V1038L V1038M V1038X
1039 5.4 E1039X
1040 6.6
1041 7.6
1042 8.5
1043 9.3 D1043G
1044 10.1
1045 10.7 L1045F
1046 11.4 Q1046X
1047 12 R1047C R1047H R1047L
1048 12.6
1049 13.2
1050 13.7
1051 14.2
1052 14.7