A188E Summary

KCNH2 A188E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A188E is not present in gnomAD. A188E 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.

A188E 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.

A188E 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 0.407 0.139 0.001 -1

A188E 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
173 14.7
174 14.2
175 13.7 A175D A175S A175X
176 13.2 R176Q R176W R176X
177 12.6 E177X
178 12
179 11.4 S179W
180 10.7
181 10.1 R181fsX R181Q R181W
182 9.3 S182X
183 8.5 G183fsX
184 7.6 G184Del
185 6.6
186 5.4 G186fsX
187 3.8 G187A G187Del G187S G187X
189 3.8 G189Ins
190 5.4 A190T A190V
191 6.6 P191fsX P191Q
192 7.6 G192fsX
193 8.5 A193fsX A193T A193V A193X
194 9.3 V194M
195 10.1
196 10.7
197 11.4 D197N D197Y
198 12 V198L
199 12.6
200 13.2 L200Q
201 13.7
202 14.2
203 14.7 A203T