A561E Summary

KCNH2 A561E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A561E is not present in gnomAD. A561E 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 3 individuals unaffected with LQT2 and 7 individuals affected with LQT2.


A561E 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.

A561E 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 0.963 -4.792 1 -1

A561E 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
419 13.3
421 15 T421fsX T421M
422 10.9 A422T
423 10.2
424 14
425 14
426 11.1 P426H
427 12.8 Y427C Y427H Y427S
430 14.1
431 13.7 F431L
529 14.4
552 14.8 L552S
553 13.7 L553V
554 11.6
555 10.6
556 8.9
557 6.7
558 5 A558E A558P A558V
559 6.1 L559F L559H
560 4.3 I560fsX I560M
562 5.1 H562P H562Q H562R
563 6.4 W563C W563G W563X
564 4.7 L564L
565 5.9
566 8 C566F C566G C566R C566S
567 9.2 I567M I567T
568 10.7 W568C
569 13.3 Y569C Y569H Y569X
570 13.9
571 14.6 I571L I571V
611 9.4 Y611D
612 11.3 V612A V612L
613 11.9 T613A T613K T613L T613M
614 8.5 A614T A614V
615 5.9 L615F L615V
616 11.2 Y616S
617 9.3 F617L F617V
618 5.1 T618S
619 5.7
620 10 S620G S620I
621 9.6 S621N S621R
622 7.4 L622F
623 10.5 T623I
624 13.8 S624N S624R
625 14.3 V625E
630 14.6 V630A V630I V630T
638 14.2 K638D K638Del K638E K638R
639 13.7 I639F I639N
640 10.9 F640Del F640L F640V
641 13.6 S641F S641P
641 12.9 S641F S641P
642 10 I642Del I642V
643 13.9
643 12.2
644 9.3 V644F V644I
645 11.2 M645I M645L M645R M645V
645 13.5 M645I M645L M645R M645V
646 10.9
646 14.7
647 10.5
648 10.8 G648A
649 13.5
649 14.2
650 14.4 L650X
651 10.6 M651K
652 13.1 Y652X
655 13.1
656 13.9 F656L