G590R Summary

KCNH2 G590R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G590R is not present in gnomAD. G590R 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 4 individuals unaffected with LQT2 and 6 individuals affected with LQT2.


G590R 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.

G590R 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 0.91 -6.179 0.992 -3

G590R has 40 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
569 14.2 Y569C Y569H Y569X
572 13.5 G572C G572D G572R G572S
573 14.4
576 13.5
583 11.6 I583V
583 12 I583V
584 10 G584C G584R G584S
584 13.8 G584C G584R G584S
585 9.9 W585C
586 7.4 L586M
587 6.7
588 6.1 N588D N588K
589 4.3 L589P
591 3.6 D591H D591N
592 5.8 Q592X
593 5.2 I593K I593R I593T I593V I593X
594 5.8
595 5.6 K595E K595N
596 5.3 P596L P596R P596S P596T
597 7 Y597C Y597H
603 10.3 G603D
604 7.9 G604C G604D G604S
605 7.1 P605L
606 10.5 S606Del S606F S606P
607 13.6
609 10.9 D609G D609N
610 10.5
612 14.4 V612A V612L
613 11.5 T613A T613K T613L T613M
614 14.5 A614T A614V
628 14.4 G628A G628D G628Del G628R G628S G628V
629 12 N629D N629I N629K N629S N629T
630 12 V630A V630I V630T
631 13.2 S631F
632 14.5 P632A P632S
633 14.3 N633D N633I N633S
633 10.7 N633D N633I N633S
634 12.9 T634A T634I T634P T634S
635 13.4 N635I
638 14.1 K638D K638Del K638E K638R