G294R Summary

KCNH2 G294R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G294R is not present in gnomAD. G294R 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.


G294R 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.

G294R 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 0.597 -1.156 0.962 -1

G294R 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
279 14.7
280 14.2
281 13.7 R281fsX R281X
282 13.2 A282X
283 12.6
284 12 S284X
285 11.4 A285fsX A285V
286 10.7 D286X
287 10.1 D287fsX
288 9.3
289 8.5 E289K
290 7.6
291 6.6
292 5.4
293 3.8
295 3.8 V295fsX
296 5.4 L296fsX
297 6.6 P297S
298 7.6 P298X
299 8.5
300 9.3
301 10.1
302 10.7 H302fsX H302H H302X
303 11.4
304 12 S304R
305 12.6
306 13.2 G306W
307 13.7 A307P
308 14.2 M308I M308R M308T M308V
309 14.7 H309Q H309Y