D286N Summary

KCNH2 D286N was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D286N is not present in gnomAD. D286N 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.


D286N 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.

D286N 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 0.461 -1.121 0.367 2

D286N 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
271 14.7 R271L
272 14.2
273 13.7 R273Q R273X
274 13.2 E274X
275 12.6 S275R
276 12 C276X
277 11.4
278 10.7
279 10.1
280 9.3
281 8.5 R281fsX R281X
282 7.6 A282X
283 6.6
284 5.4 S284X
285 3.8 A285fsX A285V
287 3.8 D287fsX
288 5.4
289 6.6 E289K
290 7.6
291 8.5
292 9.3
293 10.1
294 10.7
295 11.4 V295fsX
296 12 L296fsX
297 12.6 P297S
298 13.2 P298X
299 13.7
300 14.2
301 14.7