G584A Summary

KCNH2 G584A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G584A is not present in gnomAD. G584A 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 5 individuals unaffected with LQT2 and 5 individuals affected with LQT2.


G584A 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.

G584A 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 0.912 -5.685 0.989 0

G584A has 55 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 10 W568C
569 12.2 Y569C Y569H Y569X
570 12.5
571 10 I571L I571V
572 7.9 G572C G572D G572R G572S
573 10.9
574 13.7 M574L M574V
575 9.6 E575K
576 9.1
577 9.7
583 3.9 I583V
585 5.9 W585C
586 6.3 L586M
587 5.3
588 5.8 N588D N588K
589 13.2 L589P
589 9 L589P
590 10 G590D G590V
590 13.8 G590D G590V
591 10.1 D591H D591N
591 13.7 D591H D591N
592 9.5 Q592X
592 11.5 Q592X
593 13.9 I593K I593R I593T I593V I593X
593 9.4 I593K I593R I593T I593V I593X
594 11.6
595 13.7 K595E K595N
596 13.5 P596L P596R P596S P596T
597 11.1 Y597C Y597H
604 14.8 G604C G604D G604S
605 13.4 P605L
609 14.5 D609G D609N
610 13
613 12.8 T613A T613K T613L T613M
613 14.6 T613A T613K T613L T613M
614 13.5 A614T A614V
616 14.1 Y616S
617 12.9 F617L F617V
627 14.2 F627fsX F627L F627X
628 14 G628A G628D G628Del G628R G628S G628V
628 13.1 G628A G628D G628Del G628R G628S G628V
629 13.1 N629D N629I N629K N629S N629T
629 10.9 N629D N629I N629K N629S N629T
630 10 V630A V630I V630T
631 8.2 S631F
632 8.4 P632A P632S
633 5.7 N633D N633I N633S
634 6.5 T634A T634I T634P T634S
635 10.8 N635I
636 10.1
637 7.2 E637G E637K E637X
638 10.8 K638D K638Del K638E K638R
639 14.3 I639F I639N
640 13.7 F640Del F640L F640V
641 14.1 S641F S641P