A1061D Summary

KCNH2 A1061D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A1061D is not present in gnomAD. A1061D has been functionally characterized in 0 papers. This residue is located in a Mild_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.


A1061D 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.

A1061D 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 0.541 -1.083 0.316 -1

A1061D 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
1046 14.7 Q1046X
1047 14.2 R1047C R1047H R1047L
1048 13.7
1049 13.2
1050 12.6
1051 12
1052 11.4
1053 10.7 E1053fsX E1053X
1054 10.1 T1054fsX
1055 9.3 R1055Q R1055W
1056 8.5 L1056fsX
1057 7.6 S1057fsX S1057N
1058 6.6 A1058E A1058T
1059 5.4 D1059E
1060 3.8 M1060I M1060V
1062 3.8 T1062I T1062P T1062X
1063 5.4 V1063I V1063L
1064 6.6 L1064X
1065 7.6
1066 8.5
1067 9.3
1068 10.1 Q1068R Q1068X
1069 10.7 R1069S
1070 11.4 Q1070P Q1070X
1071 12 M1071V
1072 12.6 T1072M T1072S
1073 13.2 L1073P
1074 13.7
1075 14.2 P1075L
1076 14.7