D1043V Summary

KCNH2 D1043V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D1043V is not present in gnomAD. D1043V 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.

D1043V 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.

D1043V 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 0.788 -5.464 0.994 -5

D1043V 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
1028 14.7 S1028Del
1029 14.2 S1029fsX
1030 13.7 P1030L P1030X
1031 13.2 G1031C G1031fsX G1031X
1032 12.6 R1032fsX R1032P R1032Q R1032W R1032X
1033 12 R1033fsX R1033Q R1033W R1033X
1034 11.4 P1034fsX P1034X
1035 10.7 R1035fsX R1035Q R1035W R1035X
1036 10.1 G1036D G1036Del G1036fsX G1036X
1037 9.3 D1037E D1037fsX D1037N D1037X
1038 8.5 V1038fsX V1038L V1038M V1038X
1039 7.6 E1039X
1040 6.6
1041 5.4
1042 3.8
1044 3.8
1045 5.4 L1045F
1046 6.6 Q1046X
1047 7.6 R1047C R1047H R1047L
1048 8.5
1049 9.3
1050 10.1
1051 10.7
1052 11.4
1053 12 E1053fsX E1053X
1054 12.6 T1054fsX
1055 13.2 R1055Q R1055W
1056 13.7 L1056fsX
1057 14.2 S1057fsX S1057N
1058 14.7 A1058E A1058T