F424I Summary

KCNH2 F424I was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F424I is not present in gnomAD. F424I 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 4 individuals unaffected with LQT2 and 6 individuals affected with LQT2.


F424I 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.

F424I 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 0.812 -4.777 0.125 0

F424I has 49 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
415 14.4
416 11.8
417 10.8
418 10.6
419 8.9
420 4.6 Y420C
421 6.8 T421fsX T421M
422 6.9 A422T
423 4.3
425 6
426 7 P426H
427 6.1 Y427C Y427H Y427S
428 6.8 S428fsX S428L S428X
429 10.1 A429P A429V
430 11.4
431 10.8 F431L
432 11.8
450 13.1
451 11.9 P451L
452 7.5
453 10.4
454 12.6
455 9.5
456 8.2 D456Y
457 13.2 L457P
458 13.1
459 10.7
460 12.8 D460fsX
463 14.7 F463L
522 14.5 G522E
525 11.3 K525N
526 12.7
527 14
528 10.1 R528P R528W R528X
529 11.6
531 12.3 R531Del R531Q R531W
532 14.1
555 14.2
558 13 A558E A558P A558V
559 10.9 L559F L559H
561 14 A561P A561T A561V
562 9 H562P H562Q H562R
563 11.2 W563C W563G W563X
565 13.4
566 11.3 C566F C566G C566R C566S
607 13.9
608 14
611 10.9 Y611D
615 14.3 L615F L615V