G224A Summary

KCNH2 G224A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G224A is not present in gnomAD. G224A 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.


G224A 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.

G224A 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 0.287 -0.694 0.409 0

G224A 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
209 14.7
210 14.2
211 13.7
212 13.2
213 12.6 D213G
214 12 E214X
215 11.4 V215G V215X
216 10.7 T216A
217 10.1
218 9.3
219 8.5 D219V
220 7.6
221 6.6
222 5.4 V222L
223 3.8
225 3.8
226 5.4
227 6.6
228 7.6 A228P A228T A228V A228X
229 8.5 E229X
230 9.3 E230D
231 10.1
232 10.7 R232C R232P
233 11.4 A233S
234 12 L234Del
235 12.6
236 13.2 G236V
237 13.7
238 14.2 G238D G238R G238S
239 14.7 S239P S239X