K166Q Summary

KCNH2 K166Q was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. K166Q is not present in gnomAD. K166Q has been functionally characterized in 0 papers. This residue is located in a Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 6 individuals unaffected with LQT2 and 4 individuals affected with LQT2.


K166Q 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.

K166Q 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 0.431 -0.934 0.23 0

K166Q 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
151 14.7 P151fsX P151X
152 14.2 T152fsX T152I T152S T152X
153 13.7 S153R
154 13.2 W154R W154X
155 12.6
156 12
157 11.4 P157X
158 10.7
159 10.1
160 9.3
161 8.5
162 7.6 T162X
163 6.6
164 5.4 R164C R164H
165 3.8
167 3.8
168 5.4
169 6.6 A169G
170 7.6 L170Ins
171 8.5 L171Ins
172 9.3 A172V
173 10.1
174 10.7
175 11.4 A175D A175S A175X
176 12 R176Q R176W R176X
177 12.6 E177X
178 13.2
179 13.7 S179W
180 14.2
181 14.7 R181fsX R181Q R181W