C445W Summary

KCNH2 C445W was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C445W is not present in gnomAD. C445W 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.


C445W 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.

C445W 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 -8.701 0.998 -3

C445W 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
430 14.7
431 14.2 F431L
432 13.7
433 13.2
434 12.6
435 12 E435G E435X
436 11.4 T436M
437 10.7
438 10.1 E438K E438X
439 9.3
440 8.5 P440L
441 7.6 P441L P441R
442 6.6
443 5.4 T443fsX T443N
444 3.8 E444D E444K
446 3.8
447 5.4 Y447X
448 6.6 A448S A448T
449 7.6
450 8.5
451 9.3 P451L
452 10.1
453 10.7
454 11.4
455 12
456 12.6 D456Y
457 13.2 L457P
458 13.7
459 14.2
460 14.7 D460fsX