A303G Summary

KCNH2 A303G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A303G is not present in gnomAD. A303G 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.


A303G 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.

A303G 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 0.53 -1.141 0.76 1

A303G 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
288 14.7
289 14.2 E289K
290 13.7
291 13.2
292 12.6
293 12
294 11.4
295 10.7 V295fsX
296 10.1 L296fsX
297 9.3 P297S
298 8.5 P298X
299 7.6
300 6.6
301 5.4
302 3.8 H302fsX H302H H302X
304 3.8 S304R
305 5.4
306 6.6 G306W
307 7.6 A307P
308 8.5 M308I M308R M308T M308V
309 9.3 H309Q H309Y
310 10.1 P310L P310X
311 10.7 L311R
312 11.4 R312C R312Del R312H
313 12
314 12.6 G314S
315 13.2
316 13.7
317 14.2 N317S
318 14.7