F431Y Summary

KCNH2 F431Y was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F431Y is not present in gnomAD. F431Y has been functionally characterized in 0 papers. This residue is located in a Hotspot region for LQT2.

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


F431Y 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.

F431Y 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 0.902 -2.855 0.973 3

F431Y has 47 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
422 13.7 A422T
423 11.5
424 10.8
425 10.6
426 8 P426H
427 4.9 Y427C Y427H Y427S
428 6.8 S428fsX S428L S428X
429 6.5 A429P A429V
430 4
432 5.8
452 13.7
520 14.5
522 12.5 G522E
523 13.2
525 13.5 K525N
526 14.1
561 13.7 A561P A561T A561V
562 10 H562P H562Q H562R
563 12.7 W563C W563G W563X
564 12.8 L564L
565 8.8
566 6.6 C566F C566G C566R C566S
567 10.3 I567M I567T
568 11.6 W568C
569 5.3 Y569C Y569H Y569X
570 8.5
571 12 I571L I571V
572 11.1 G572C G572D G572R G572S
573 9
574 11.8 M574L M574V
576 15
585 12.6 W585C
586 12 L586M
589 14.7 L589P
604 13.9 G604C G604D G604S
605 11.8 P605L
606 10.5 S606Del S606F S606P
607 6.5
608 10.5
609 10.1 D609G D609N
610 7.1
611 7.2 Y611D
612 10.9 V612A V612L
613 11.7 T613A T613K T613L T613M
614 10.1 A614T A614V
615 11.8 L615F L615V
618 14.6 T618S