A185V Summary

KCNH2 A185V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A185V is not present in gnomAD. A185V has been functionally characterized in 0 papers. This residue is located in a Mild_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 7 individuals unaffected with LQT2 and 3 individuals affected with LQT2.

A185V 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.

A185V 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 0.286 -0.438 0 -1

A185V 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
170 14.7 L170Ins
171 14.2 L171Ins
172 13.7 A172V
173 13.2
174 12.6
175 12 A175D A175S A175X
176 11.4 R176Q R176W R176X
177 10.7 E177X
178 10.1
179 9.3 S179W
180 8.5
181 7.6 R181fsX R181Q R181W
182 6.6 S182X
183 5.4 G183fsX
184 3.8 G184Del
186 3.8 G186fsX
187 5.4 G187A G187Del G187S G187X
188 6.6 A188P A188S A188X
189 7.6 G189Ins
190 8.5 A190T A190V
191 9.3 P191fsX P191Q
192 10.1 G192fsX
193 10.7 A193fsX A193T A193V A193X
194 11.4 V194M
195 12
196 12.6
197 13.2 D197N D197Y
198 13.7 V198L
199 14.2
200 14.7 L200Q