G236V Summary

KCNH2 G236V was found in 0 papers (see below) with a total of 5 carriers: 0 had LQT2. G236V is present in 5 out of 104620 alleles in gnomAD (0.004779%). G236V 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 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.


G236V 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.

G236V 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
-5 0.438 -1.692 0.057 -2

G236V 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
221 14.7
222 14.2 V222L
223 13.7
224 13.2
225 12.6
226 12
227 11.4
228 10.7 A228P A228T A228V A228X
229 10.1 E229X
230 9.3 E230D
231 8.5
232 7.6 R232C R232P
233 6.6 A233S
234 5.4 L234Del
235 3.8
237 3.8
238 5.4 G238D G238R G238S
239 6.6 S239P S239X
240 7.6 P240L
241 8.5 P241fsX P241L P241S
242 9.3 R242C R242X
243 10.1 S243R S243X
244 10.7 A244E A244G
245 11.4 P245R
246 12
247 12.6 Q247R Q247X
248 13.2
249 13.7
250 14.2
251 14.7 P251A