F551L Summary

KCNH2 F551L was found in 0 papers (see below) with a total of 1 carrier: 0 had LQT2. F551L is present in 1 out of 31390 alleles in gnomAD (0.003186%). F551L has been functionally characterized in 0 papers. This residue is located in a Non_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.


F551L 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.

F551L 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
-3 0.695 -3.761 0.01 1

F551L has 44 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
411 14.5
412 9.8 W412X
413 13.9 L413P
414 14.1 I414fsX
415 9.1
416 10.2
417 14.3
418 12.5
419 9.7
422 14.1 A422T
423 14.3
532 14.3
535 12.4 V535M
539 13.1
541 14.9 R541C R541H
542 10.2
543 11.7 S543fsX
544 13.9 E544A E544fsX
545 11.5
546 10
547 7.6 A547T
548 5.7
549 7.2 V549M
550 5.9
552 4.7 L552S
553 7.5 L553V
554 6.9
555 5.2
556 8.4
557 11.4
558 10.6 A558E A558P A558V
559 11.2 L559F L559H
560 14 I560fsX I560M
646 12.6
647 14.8
649 15
650 12.8 L650X
655 12.5
656 13.5 F656L
658 14
659 11.7
662 12.4
663 14
666 14.4