G306W Summary

KCNH2 G306W was found in 2 papers (see below) with a total of 1 carrier: 1 had LQT2. G306W is not present in gnomAD. G306W has been functionally characterized in 0 papers. This residue is located in a Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 6 individuals unaffected with LQT2 and 4 individuals affected with LQT2.


G306W Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
15840476 2005 1 0 1
19038855 2009 1 0 1 Seizure
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

G306W 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
-15 0.822 -3.556 1 -3

G306W 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
291 14.7
292 14.2
293 13.7
294 13.2
295 12.6 V295fsX
296 12 L296fsX
297 11.4 P297S
298 10.7 P298X
299 10.1
300 9.3
301 8.5
302 7.6 H302fsX H302H H302X
303 6.6
304 5.4 S304R
305 3.8
307 3.8 A307P
308 5.4 M308I M308R M308T M308V
309 6.6 H309Q H309Y
310 7.6 P310L P310X
311 8.5 L311R
312 9.3 R312C R312Del R312H
313 10.1
314 10.7 G314S
315 11.4
316 12
317 12.6 N317S
318 13.2
319 13.7 T319T
320 14.2 S320L S320W S320X
321 14.7 D321Y