D383E Summary

KCNH2 D383E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D383E is not present in gnomAD. D383E has been functionally characterized in 0 papers. This residue is located in a Mild_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 7 individuals unaffected with LQT2 and 3 individuals affected with LQT2.


D383E 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.

D383E 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 0.649 -3.573 0.938 1

D383E 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
368 14.7 H368Y
369 14.2 N369K
370 13.7
371 13.2
372 12.6
373 12
374 11.4
375 10.7
376 10.1 Q376R Q376sp
377 9.3
378 8.5
379 7.6 S379Y
380 6.6 L380X
381 5.4
382 3.8 A382T
384 3.8
385 5.4
386 6.6 P386X
387 7.6
388 8.5
389 9.3
390 10.1
391 10.7 Q391X
392 11.4
393 12 P393L
394 12.6 R394C R394H
395 13.2
396 13.7
397 14.2 R397H R397X
398 14.7 W398L W398X