H309R Summary

KCNH2 H309R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. H309R is not present in gnomAD. H309R 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.


H309R 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.

H309R 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 0.692 -1.591 0.65 1

H309R 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
294 14.7
295 14.2 V295fsX
296 13.7 L296fsX
297 13.2 P297S
298 12.6 P298X
299 12
300 11.4
301 10.7
302 10.1 H302fsX H302H H302X
303 9.3
304 8.5 S304R
305 7.6
306 6.6 G306W
307 5.4 A307P
308 3.8 M308I M308R M308T M308V
310 3.8 P310L P310X
311 5.4 L311R
312 6.6 R312C R312Del R312H
313 7.6
314 8.5 G314S
315 9.3
316 10.1
317 10.7 N317S
318 11.4
319 12 T319T
320 12.6 S320L S320W S320X
321 13.2 D321Y
322 13.7
323 14.2 D323E D323N
324 14.7 L324L