A228E Summary

KCNH2 A228E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A228E is not present in gnomAD. A228E 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.


A228E 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.

A228E 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 0.348 -0.28 0.012 0

A228E 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
213 14.7 D213G
214 14.2 E214X
215 13.7 V215G V215X
216 13.2 T216A
217 12.6
218 12
219 11.4 D219V
220 10.7
221 10.1
222 9.3 V222L
223 8.5
224 7.6
225 6.6
226 5.4
227 3.8
229 3.8 E229X
230 5.4 E230D
231 6.6
232 7.6 R232C R232P
233 8.5 A233S
234 9.3 L234Del
235 10.1
236 10.7 G236V
237 11.4
238 12 G238D G238R G238S
239 12.6 S239P S239X
240 13.2 P240L
241 13.7 P241fsX P241L P241S
242 14.2 R242C R242X
243 14.7 S243R S243X