G626A Summary

KCNH2 G626A was found in 1 paper (see below) with a total of 2 carriers: 2 had LQT2. G626A is not present in gnomAD. G626A 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.


G626A Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
Italy Cohort 2020 2 0 2
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

G626A 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
-2 0.951 -5.801 1 0

G626A has 88 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
568 13.9 W568C
585 14.8 W585C
613 12.9 T613A T613K T613L T613M
614 13.2 A614T A614V
615 13.3 L615F L615V
616 13.2 Y616S
616 8.6 Y616S
616 11.5 Y616S
617 11.2 F617L F617V
617 8.3 F617L F617V
617 13 F617L F617V
618 14.9 T618S
618 13.6 T618S
618 10.5 T618S
619 10.9
619 14
619 14.8
620 11.8 S620G S620I
620 9.2 S620G S620I
620 5.2 S620G S620I
620 9.1 S620G S620I
621 8.7 S621N S621R
621 6.9 S621N S621R
621 11.4 S621N S621R
621 12.6 S621N S621R
622 10.3 L622F
622 14 L622F
622 12.5 L622F
623 10.7 T623I
623 8.4 T623I
623 13 T623I
623 11.2 T623I
624 8.5 S624N S624R
624 7.7 S624N S624R
624 9.5 S624N S624R
624 6.6 S624N S624R
625 8 V625E
625 5.2 V625E
625 3.5 V625E
625 7 V625E
627 9.3 F627fsX F627L F627X
627 5.4 F627fsX F627L F627X
627 4 F627fsX F627L F627X
627 8.6 F627fsX F627L F627X
628 8.4 G628A G628D G628Del G628R G628S G628V
628 10.1 G628A G628D G628Del G628R G628S G628V
628 8.4 G628A G628D G628Del G628R G628S G628V
628 6.3 G628A G628D G628Del G628R G628S G628V
629 11.8 N629D N629I N629K N629S N629T
629 8.6 N629D N629I N629K N629S N629T
629 13.1 N629D N629I N629K N629S N629T
629 10.4 N629D N629I N629K N629S N629T
630 8.4 V630A V630I V630T
630 14 V630A V630I V630T
630 11 V630A V630I V630T
630 12.1 V630A V630I V630T
631 13.1 S631F
631 13.6 S631F
631 9.3 S631F
631 10 S631F
632 10.5 P632A P632S
632 10.9 P632A P632S
632 14.8 P632A P632S
633 13.8 N633D N633I N633S
633 14.5 N633D N633I N633S
637 14.9 E637G E637K E637X
637 14.8 E637G E637K E637X
638 12.4 K638D K638Del K638E K638R
638 14.1 K638D K638Del K638E K638R
640 14.8 F640Del F640L F640V
640 14.3 F640Del F640L F640V
641 11 S641F S641P
641 10.4 S641F S641P
642 12.2 I642Del I642V
642 14 I642Del I642V
644 12.6 V644F V644I
644 12.1 V644F V644I
645 14.6 M645I M645L M645R M645V
645 10.6 M645I M645L M645R M645V
645 13.7 M645I M645L M645R M645V
645 9.3 M645I M645L M645R M645V
646 14.8
648 13.5 G648A
648 13.9 G648A
649 14.7
649 14.1
652 15 Y652X
652 13.7 Y652X