G149R Summary

KCNH2 G149R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G149R is not present in gnomAD. G149R 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.


G149R 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.

G149R 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 0.33 -0.487 0 0

G149R 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
134 14.7 E134X
135 14.2
136 13.7
137 13.2
138 12.6
139 12 G139A G139R
140 11.4 S140Y
141 10.7 P141fsX P141L P141S
142 10.1 A142T
143 9.3
144 8.5 D144V
145 7.6
146 6.6 N146X
147 5.4 H147R H147X
148 3.8 R148fsX R148Q R148W R148Y
150 3.8 P150L
151 5.4 P151fsX P151X
152 6.6 T152fsX T152I T152S T152X
153 7.6 S153R
154 8.5 W154R W154X
155 9.3
156 10.1
157 10.7 P157X
158 11.4
159 12
160 12.6
161 13.2
162 13.7 T162X
163 14.2
164 14.7 R164C R164H