A211D Summary

KCNH2 A211D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A211D is not present in gnomAD. A211D 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.


A211D 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.

A211D 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 0.664 -1.374 0.992 -2

A211D 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
196 14.7
197 14.2 D197N D197Y
198 13.7 V198L
199 13.2
200 12.6 L200Q
201 12
202 11.4
203 10.7 A203T
204 10.1
205 9.3 P205L
206 8.5
207 7.6 S207X
208 6.6 E208X
209 5.4
210 3.8
212 3.8
213 5.4 D213G
214 6.6 E214X
215 7.6 V215G V215X
216 8.5 T216A
217 9.3
218 10.1
219 10.7 D219V
220 11.4
221 12
222 12.6 V222L
223 13.2
224 13.7
225 14.2
226 14.7