H302D Summary

KCNH2 H302D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. H302D is not present in gnomAD. H302D 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.


H302D 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.

H302D 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 0.546 -3.437 0.94 -1

H302D 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
287 14.7 D287fsX
288 14.2
289 13.7 E289K
290 13.2
291 12.6
292 12
293 11.4
294 10.7
295 10.1 V295fsX
296 9.3 L296fsX
297 8.5 P297S
298 7.6 P298X
299 6.6
300 5.4
301 3.8
303 3.8
304 5.4 S304R
305 6.6
306 7.6 G306W
307 8.5 A307P
308 9.3 M308I M308R M308T M308V
309 10.1 H309Q H309Y
310 10.7 P310L P310X
311 11.4 L311R
312 12 R312C R312Del R312H
313 12.6
314 13.2 G314S
315 13.7
316 14.2
317 14.7 N317S