A169G Summary

KCNH2 A169G was found in 1 paper (see below) with a total of 1 carrier: 1 had LQT2. A169G is not present in gnomAD. A169G 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 2 individuals unaffected with LQT2 and 8 individuals affected with LQT2.


A169G Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
26496715 2015 1 0 1
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

A169G 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
-2 0.443 -1.554 0.014 1

A169G 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
154 14.7 W154R W154X
155 14.2
156 13.7
157 13.2 P157X
158 12.6
159 12
160 11.4
161 10.7
162 10.1 T162X
163 9.3
164 8.5 R164C R164H
165 7.6
166 6.6
167 5.4
168 3.8
170 3.8 L170Ins
171 5.4 L171Ins
172 6.6 A172V
173 7.6
174 8.5
175 9.3 A175D A175S A175X
176 10.1 R176Q R176W R176X
177 10.7 E177X
178 11.4
179 12 S179W
180 12.6
181 13.2 R181fsX R181Q R181W
182 13.7 S182X
183 14.2 G183fsX
184 14.7 G184Del