D609E Summary

KCNH2 D609E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D609E is not present in gnomAD. D609E 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.


D609E 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.

D609E 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 0.757 -3.527 0.616 1

D609E has 56 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
427 11.6 Y427C Y427H Y427S
430 13.8
431 10.1 F431L
432 14.7
562 13.7 H562P H562Q H562R
565 11.5
566 12.6 C566F C566G C566R C566S
568 12.5 W568C
569 10 Y569C Y569H Y569X
570 14.6
572 14 G572C G572D G572R G572S
573 13.8
575 14.8 E575K
583 14 I583V
584 14.5 G584C G584R G584S
585 10.7 W585C
586 10 L586M
587 14.2
588 13.1 N588D N588K
589 8.1 L589P
590 10.9 G590D G590V
591 14 D591H D591N
592 11.3 Q592X
593 8.6 I593K I593R I593T I593V I593X
594 11.5
595 9.7 K595E K595N
596 14 P596L P596R P596S P596T
597 13.8 Y597C Y597H
603 13.4 G603D
604 10.3 G604C G604D G604S
605 7 P605L
606 4.7 S606Del S606F S606P
607 5.8
608 4.8
610 4.6
611 6.9 Y611D
612 4.9 V612A V612L
613 5.8 T613A T613K T613L T613M
614 8.1 A614T A614V
615 9.9 L615F L615V
616 10.3 Y616S
617 12.8 F617L F617V
618 14.1 T618S
619 14.9
629 12.9 N629D N629I N629K N629S N629T
630 12.1 V630A V630I V630T
632 11.9 P632A P632S
633 10.4 N633D N633I N633S
634 8.9 T634A T634I T634P T634S
635 5.6 N635I
636 10.3
637 11.7 E637G E637K E637X
638 8 K638D K638Del K638E K638R
639 10.2 I639F I639N
641 13.9 S641F S641P
642 12.9 I642Del I642V