A282S Summary

KCNH2 A282S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A282S is not present in gnomAD. A282S 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.


A282S 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.

A282S 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 0.61 -1.125 0.785 2

A282S 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
267 14.7
268 14.2 A268X
269 13.7
270 13.2
271 12.6 R271L
272 12
273 11.4 R273Q R273X
274 10.7 E274X
275 10.1 S275R
276 9.3 C276X
277 8.5
278 7.6
279 6.6
280 5.4
281 3.8 R281fsX R281X
283 3.8
284 5.4 S284X
285 6.6 A285fsX A285V
286 7.6 D286X
287 8.5 D287fsX
288 9.3
289 10.1 E289K
290 10.7
291 11.4
292 12
293 12.6
294 13.2
295 13.7 V295fsX
296 14.2 L296fsX
297 14.7 P297S