F619V Summary

KCNH2 F619V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F619V is not present in gnomAD. F619V 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.


F619V 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.

F619V 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 0.905 -6.572 0.616 -1

F619V has 78 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
423 14.4
553 14.5 L553V
554 10.8
555 12.4
556 11.5
557 6.6
558 7.1 A558E A558P A558V
559 10.4 L559F L559H
560 8.6 I560fsX I560M
561 5.7 A561P A561T A561V
562 9.6 H562P H562Q H562R
563 12 W563C W563G W563X
564 9 L564L
565 9.3
566 12.4 C566F C566G C566R C566S
567 13.5 I567M I567T
568 12.2 W568C
609 14.9 D609G D609N
611 10.9 Y611D
612 10.3 V612A V612L
613 10.8 T613A T613K T613L T613M
614 8.9 A614T A614V
615 5.5 L615F L615V
616 7.5 Y616S
617 7.9 F617L F617V
618 4.9 T618S
620 5.8 S620G S620I
620 14.7 S620G S620I
621 7.4 S621N S621R
621 11.2 S621N S621R
622 13.2 L622F
622 5.7 L622F
623 6.1 T623I
623 14.8 T623I
623 15 T623I
624 12.1 S624N S624R
624 14.6 S624N S624R
624 9.8 S624N S624R
625 14.7 V625E
625 9.4 V625E
625 12.6 V625E
626 10.9 G626A G626S G626V
626 14.8 G626A G626S G626V
626 14 G626A G626S G626V
627 13.5 F627fsX F627L F627X
627 10.7 F627fsX F627L F627X
628 14.3 G628A G628D G628Del G628R G628S G628V
629 14.2 N629D N629I N629K N629S N629T
630 12.4 V630A V630I V630T
631 15 S631F
632 13 P632A P632S
635 14.8 N635I
637 15 E637G E637K E637X
638 10.8 K638D K638Del K638E K638R
639 10.6 I639F I639N
640 13 F640Del F640L F640V
640 12.3 F640Del F640L F640V
641 13.1 S641F S641P
641 8.4 S641F S641P
642 5.6 I642Del I642V
643 9.5
643 14.4
644 9.8 V644F V644I
644 10.3 V644F V644I
645 12.8 M645I M645L M645R M645V
645 5.5 M645I M645L M645R M645V
646 6.9
647 12.4
647 11.3
648 10.6 G648A
648 10.7 G648A
649 13.7
649 9.4
650 12.8 L650X
651 11.6 M651K
652 10.6 Y652X
655 13.1
656 12.1 F656L