G158R Summary

KCNH2 G158R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G158R is not present in gnomAD. G158R 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.


G158R 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.

G158R 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 0.469 -1.942 0.003 -3

G158R 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
143 14.7
144 14.2 D144V
145 13.7
146 13.2 N146X
147 12.6 H147R H147X
148 12 R148fsX R148Q R148W R148Y
149 11.4 G149A G149V
150 10.7 P150L
151 10.1 P151fsX P151X
152 9.3 T152fsX T152I T152S T152X
153 8.5 S153R
154 7.6 W154R W154X
155 6.6
156 5.4
157 3.8 P157X
159 3.8
160 5.4
161 6.6
162 7.6 T162X
163 8.5
164 9.3 R164C R164H
165 10.1
166 10.7
167 11.4
168 12
169 12.6 A169G
170 13.2 L170Ins
171 13.7 L171Ins
172 14.2 A172V
173 14.7