F627V Summary

KCNH2 F627V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F627V is not present in gnomAD. F627V 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.


F627V 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.

F627V 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 0.94 -6.767 1 -1

F627V has 87 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
564 14.9 L564L
568 12 W568C
568 14.4 W568C
584 14.2 G584C G584R G584S
585 12.9 W585C
585 14.4 W585C
588 14.5 N588D N588K
588 13.9 N588D N588K
589 14.4 L589P
592 13 Q592X
612 13.1 V612A V612L
613 11 T613A T613K T613L T613M
613 13.9 T613A T613K T613L T613M
614 12.2 A614T A614V
614 13.6 A614T A614V
615 12.2 L615F L615V
616 6.3 Y616S
616 14.8 Y616S
616 11.3 Y616S
617 8.8 F617L F617V
617 8.2 F617L F617V
618 11.2 T618S
618 11.2 T618S
619 13.5
619 10.7
620 14.2 S620G S620I
620 13.2 S620G S620I
620 6.1 S620G S620I
620 8 S620G S620I
621 7.2 S621N S621R
621 9.4 S621N S621R
621 14.1 S621N S621R
622 11.6 L622F
622 12.1 L622F
623 9.8 T623I
623 14.6 T623I
623 11.5 T623I
624 9.2 S624N S624R
624 9.4 S624N S624R
624 12 S624N S624R
624 12.1 S624N S624R
625 5.4 V625E
625 9.2 V625E
625 11.1 V625E
625 8.3 V625E
626 8.6 G626A G626S G626V
626 5.4 G626A G626S G626V
626 4 G626A G626S G626V
626 9.3 G626A G626S G626V
628 10.3 G628A G628D G628Del G628R G628S G628V
628 5.6 G628A G628D G628Del G628R G628S G628V
628 11.1 G628A G628D G628Del G628R G628S G628V
628 6.9 G628A G628D G628Del G628R G628S G628V
629 6.2 N629D N629I N629K N629S N629T
629 10.1 N629D N629I N629K N629S N629T
629 14.6 N629D N629I N629K N629S N629T
629 12.2 N629D N629I N629K N629S N629T
630 8 V630A V630I V630T
630 14.8 V630A V630I V630T
630 7.7 V630A V630I V630T
630 14.9 V630A V630I V630T
631 6.4 S631F
631 13.4 S631F
631 10.1 S631F
632 12.7 P632A P632S
632 14 P632A P632S
632 6.5 P632A P632S
633 10.2 N633D N633I N633S
634 12.8 T634A T634I T634P T634S
635 14.3 N635I
636 14
637 10.9 E637G E637K E637X
638 9.1 K638D K638Del K638E K638R
639 12.8 I639F I639N
640 11.4 F640Del F640L F640V
641 7.4 S641F S641P
641 13.9 S641F S641P
642 10.1 I642Del I642V
643 13.2
644 10.5 V644F V644I
644 14.7 V644F V644I
645 14.1 M645I M645L M645R M645V
645 8.2 M645I M645L M645R M645V
645 13.8 M645I M645L M645R M645V
646 14
648 13.5 G648A
649 14.4