A442P Summary

KCNH2 A442P was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A442P is not present in gnomAD. A442P 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 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


A442P 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.

A442P 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 0.518 -1.132 0.014 -1

A442P 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
427 14.7 Y427C Y427H Y427S
428 14.2 S428fsX S428L S428X
429 13.7 A429P A429V
430 13.2
431 12.6 F431L
432 12
433 11.4
434 10.7
435 10.1 E435G E435X
436 9.3 T436M
437 8.5
438 7.6 E438K E438X
439 6.6
440 5.4 P440L
441 3.8 P441L P441R
443 3.8 T443fsX T443N
444 5.4 E444D E444K
445 6.6
446 7.6
447 8.5 Y447X
448 9.3 A448S A448T
449 10.1
450 10.7
451 11.4 P451L
452 12
453 12.6
454 13.2
455 13.7
456 14.2 D456Y
457 14.7 L457P