F617S Summary

KCNH2 F617S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F617S is not present in gnomAD. F617S 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 2 individuals unaffected with LQT2 and 8 individuals affected with LQT2.


F617S 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.

F617S 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 0.942 -7.588 1 -3

F617S has 83 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
557 13.6
558 13.5 A558E A558P A558V
560 12.7 I560fsX I560M
561 9.3 A561P A561T A561V
562 12.3 H562P H562Q H562R
563 14.3 W563C W563G W563X
564 8.5 L564L
565 7.8
566 11.3 C566F C566G C566R C566S
567 10.7 I567M I567T
568 5.9 W568C
569 11.8 Y569C Y569H Y569X
570 12.8
571 11.4 I571L I571V
572 12.9 G572C G572D G572R G572S
584 12.9 G584C G584R G584S
585 8.4 W585C
586 12.2 L586M
588 12.5 N588D N588K
589 12.1 L589P
592 13.8 Q592X
609 12.8 D609G D609N
610 12.7
611 11.2 Y611D
612 10 V612A V612L
613 7.2 T613A T613K T613L T613M
614 5.6 A614T A614V
615 7.3 L615F L615V
616 6 Y616S
616 11.8 Y616S
618 4.4 T618S
619 7.9
620 5.4 S620G S620I
620 12.8 S620G S620I
621 5.6 S621N S621R
621 14 S621N S621R
622 8.6 L622F
623 14.1 T623I
623 10.1 T623I
624 14.2 S624N S624R
624 14.2 S624N S624R
624 11 S624N S624R
625 9.7 V625E
625 10.5 V625E
626 8.3 G626A G626S G626V
626 11.2 G626A G626S G626V
626 13 G626A G626S G626V
627 8.2 F627fsX F627L F627X
627 8.8 F627fsX F627L F627X
628 9.1 G628A G628D G628Del G628R G628S G628V
628 14.5 G628A G628D G628Del G628R G628S G628V
628 12.4 G628A G628D G628Del G628R G628S G628V
629 11.8 N629D N629I N629K N629S N629T
629 9.5 N629D N629I N629K N629S N629T
630 5.6 V630A V630I V630T
631 13.2 S631F
631 7.4 S631F
632 11.6 P632A P632S
632 8.2 P632A P632S
633 13.4 N633D N633I N633S
633 12.1 N633D N633I N633S
634 13 T634A T634I T634P T634S
635 14.5 N635I
636 12.8
637 9.4 E637G E637K E637X
638 10.3 K638D K638Del K638E K638R
638 11.6 K638D K638Del K638E K638R
639 13.6 I639F I639N
639 13.1 I639F I639N
640 8.2 F640Del F640L F640V
641 7.8 S641F S641P
641 11.4 S641F S641P
642 12 I642Del I642V
642 10.6 I642Del I642V
643 11.8
644 15 V644F V644I
644 8.4 V644F V644I
645 10.7 M645I M645L M645R M645V
645 10.3 M645I M645L M645R M645V
646 14.6
646 14.7
647 13.3
648 12.6 G648A