K116Q Summary

KCNH2 K116Q was found in 0 papers (see below) with a total of 1 carrier: 0 had LQT2. K116Q is present in 1 out of 251436 alleles in gnomAD (0.000398%). K116Q 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.


K116Q 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.

K116Q 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
-3 0.798 -2.788 0.483 0

K116Q has 31 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
12 14.8 N12D
14 11.3
15 13.7 L15V
18 13.4 I18M
31 14.5 I31S
32 13.3 A32T
33 13 N33T
34 11.5 A34T
35 13.8 R35W
85 13.4 A85P A85V
86 12.7 L86R
87 13.3 L87P
88 10.9
89 8.2 A89G A89V
90 9.7 E90K
91 12.1
92 14.2 R92C R92L
112 12.6 V112M
113 9.5 V113Del
114 6.4 P114S
115 4.7 V115M
117 5.1
118 7.6 E118D E118K E118X
119 7.8 D119G D119H
120 5.7
121 4.8 A121fsX
122 5.6
123 7
124 9 M124R M124T
125 10
126 11.4