A565D Summary

KCNH2 A565D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A565D is not present in gnomAD. A565D 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.


A565D 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.

A565D 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 0.914 -5.751 1 -2

A565D has 68 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
422 12.4 A422T
423 11.1
424 13.4
425 12.9
426 9.2 P426H
427 9.9 Y427C Y427H Y427S
428 12.8 S428fsX S428L S428X
429 11.8 A429P A429V
430 9.4
431 8.8 F431L
432 14.3
556 14.4
557 12.6
558 10.2 A558E A558P A558V
559 10.2 L559F L559H
560 9.4 I560fsX I560M
561 5.9 A561P A561T A561V
562 5.7 H562P H562Q H562R
563 7.9 W563C W563G W563X
564 4.7 L564L
566 3.6 C566F C566G C566R C566S
567 5.5 I567M I567T
568 6.1 W568C
569 7.4 Y569C Y569H Y569X
570 8.5
571 9.7 I571L I571V
572 11.4 G572C G572D G572R G572S
573 12.1
574 13.9 M574L M574V
585 10.2 W585C
586 12.6 L586M
589 14.4 L589P
606 14.8 S606Del S606F S606P
607 12.4
608 13.3
609 11.5 D609G D609N
610 10.1
611 6.5 Y611D
612 8.9 V612A V612L
613 8.5 T613A T613K T613L T613M
614 4.7 A614T A614V
615 5.6 L615F L615V
616 10.5 Y616S
617 7.8 F617L F617V
618 6 T618S
619 9.3
620 11.4 S620G S620I
621 11.1 S621N S621R
622 11.2 L622F
623 14.2 T623I
630 12 V630A V630I V630T
631 13.9 S631F
632 13.8 P632A P632S
635 14.9 N635I
636 13.9
637 12.1 E637G E637K E637X
638 13 K638D K638Del K638E K638R
639 14 I639F I639N
640 9 F640Del F640L F640V
641 12.2 S641F S641P
641 15 S641F S641P
642 12.1 I642Del I642V
643 12.7
644 10.6 V644F V644I
645 14.9 M645I M645L M645R M645V
645 14.2 M645I M645L M645R M645V
647 13.6
648 14.6 G648A