E229K Summary

KCNH2 E229K was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E229K is not present in gnomAD. E229K 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 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


E229K 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.

E229K 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 0.496 -1.264 0.498 -1

E229K 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
214 14.7 E214X
215 14.2 V215G V215X
216 13.7 T216A
217 13.2
218 12.6
219 12 D219V
220 11.4
221 10.7
222 10.1 V222L
223 9.3
224 8.5
225 7.6
226 6.6
227 5.4
228 3.8 A228P A228T A228V A228X
230 3.8 E230D
231 5.4
232 6.6 R232C R232P
233 7.6 A233S
234 8.5 L234Del
235 9.3
236 10.1 G236V
237 10.7
238 11.4 G238D G238R G238S
239 12 S239P S239X
240 12.6 P240L
241 13.2 P241fsX P241L P241S
242 13.7 R242C R242X
243 14.2 S243R S243X
244 14.7 A244E A244G