D197V Summary

KCNH2 D197V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D197V is not present in gnomAD. D197V 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.


D197V 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.

D197V 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 0.526 -2.258 0.655 -2

D197V 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
182 14.7 S182X
183 14.2 G183fsX
184 13.7 G184Del
185 13.2
186 12.6 G186fsX
187 12 G187A G187Del G187S G187X
188 11.4 A188P A188S A188X
189 10.7 G189Ins
190 10.1 A190T A190V
191 9.3 P191fsX P191Q
192 8.5 G192fsX
193 7.6 A193fsX A193T A193V A193X
194 6.6 V194M
195 5.4
196 3.8
198 3.8 V198L
199 5.4
200 6.6 L200Q
201 7.6
202 8.5
203 9.3 A203T
204 10.1
205 10.7 P205L
206 11.4
207 12 S207X
208 12.6 E208X
209 13.2
210 13.7
211 14.2
212 14.7