K434E Summary

KCNH2 K434E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. K434E is not present in gnomAD. K434E 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 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.


K434E 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.

K434E 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 0.654 -0.656 0.47 0

K434E 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
419 14.7
420 14.2 Y420C
421 13.7 T421fsX T421M
422 13.2 A422T
423 12.6
424 12
425 11.4
426 10.7 P426H
427 10.1 Y427C Y427H Y427S
428 9.3 S428fsX S428L S428X
429 8.5 A429P A429V
430 7.6
431 6.6 F431L
432 5.4
433 3.8
435 3.8 E435G E435X
436 5.4 T436M
437 6.6
438 7.6 E438K E438X
439 8.5
440 9.3 P440L
441 10.1 P441L P441R
442 10.7
443 11.4 T443fsX T443N
444 12 E444D E444K
445 12.6
446 13.2
447 13.7 Y447X
448 14.2 A448S A448T
449 14.7