E214V Summary

KCNH2 E214V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E214V is not present in gnomAD. E214V 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.


E214V 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.

E214V 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 0.639 -1.836 0.793 -3

E214V 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
199 14.7
200 14.2 L200Q
201 13.7
202 13.2
203 12.6 A203T
204 12
205 11.4 P205L
206 10.7
207 10.1 S207X
208 9.3 E208X
209 8.5
210 7.6
211 6.6
212 5.4
213 3.8 D213G
215 3.8 V215G V215X
216 5.4 T216A
217 6.6
218 7.6
219 8.5 D219V
220 9.3
221 10.1
222 10.7 V222L
223 11.4
224 12
225 12.6
226 13.2
227 13.7
228 14.2 A228P A228T A228V A228X
229 14.7 E229X