D213A Summary

KCNH2 D213A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D213A is not present in gnomAD. D213A 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.


D213A 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.

D213A 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 0.514 -0.846 0.447 -1

D213A 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
198 14.7 V198L
199 14.2
200 13.7 L200Q
201 13.2
202 12.6
203 12 A203T
204 11.4
205 10.7 P205L
206 10.1
207 9.3 S207X
208 8.5 E208X
209 7.6
210 6.6
211 5.4
212 3.8
214 3.8 E214X
215 5.4 V215G V215X
216 6.6 T216A
217 7.6
218 8.5
219 9.3 D219V
220 10.1
221 10.7
222 11.4 V222L
223 12
224 12.6
225 13.2
226 13.7
227 14.2
228 14.7 A228P A228T A228V A228X