D1059H Summary

KCNH2 D1059H was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D1059H is not present in gnomAD. D1059H 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.

D1059H 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.

D1059H 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 0.762 -5.402 1 -2

D1059H 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
1044 14.7
1045 14.2 L1045F
1046 13.7 Q1046X
1047 13.2 R1047C R1047H R1047L
1048 12.6
1049 12
1050 11.4
1051 10.7
1052 10.1
1053 9.3 E1053fsX E1053X
1054 8.5 T1054fsX
1055 7.6 R1055Q R1055W
1056 6.6 L1056fsX
1057 5.4 S1057fsX S1057N
1058 3.8 A1058E A1058T
1060 3.8 M1060I M1060V
1061 5.4 A1061P
1062 6.6 T1062I T1062P T1062X
1063 7.6 V1063I V1063L
1064 8.5 L1064X
1065 9.3
1066 10.1
1067 10.7
1068 11.4 Q1068R Q1068X
1069 12 R1069S
1070 12.6 Q1070P Q1070X
1071 13.2 M1071V
1072 13.7 T1072M T1072S
1073 14.2 L1073P
1074 14.7