A172G Summary

KCNH2 A172G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A172G is not present in gnomAD. A172G 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.


A172G 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.

A172G 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 0.455 -1.249 0.889 -1

A172G 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
157 14.7 P157X
158 14.2
159 13.7
160 13.2
161 12.6
162 12 T162X
163 11.4
164 10.7 R164C R164H
165 10.1
166 9.3
167 8.5
168 7.6
169 6.6 A169G
170 5.4 L170Ins
171 3.8 L171Ins
173 3.8
174 5.4
175 6.6 A175D A175S A175X
176 7.6 R176Q R176W R176X
177 8.5 E177X
178 9.3
179 10.1 S179W
180 10.7
181 11.4 R181fsX R181Q R181W
182 12 S182X
183 12.6 G183fsX
184 13.2 G184Del
185 13.7
186 14.2 G186fsX
187 14.7 G187A G187Del G187S G187X