A570G Summary

KCNH2 A570G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A570G is not present in gnomAD. A570G 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.


A570G 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.

A570G 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 0.941 -3.794 0.996 0

A570G 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
425 14.6
426 11.3 P426H
427 12.5 Y427C Y427H Y427S
428 12.9 S428fsX S428L S428X
429 9.9 A429P A429V
430 6.9
431 8.5 F431L
432 11.8
522 14 G522E
523 12.5
526 14.4
561 13.9 A561P A561T A561V
562 12.8 H562P H562Q H562R
563 12.9 W563C W563G W563X
564 10.3 L564L
565 8.5
566 7.2 C566F C566G C566R C566S
567 5.7 I567M I567T
568 7.1 W568C
569 4.7 Y569C Y569H Y569X
571 4 I571L I571V
572 5.1 G572C G572D G572R G572S
573 5.1
574 5.4 M574L M574V
575 8.4 E575K
576 10.5
577 13.9
583 14.9 I583V
584 12.5 G584C G584R G584S
585 9.3 W585C
586 10.1 L586M
587 13.9
589 14.8 L589P
605 14.8 P605L
607 13.3
609 14.6 D609G D609N
610 10.6
611 12.2 Y611D
612 14.8 V612A V612L
613 13 T613A T613K T613L T613M
614 10.5 A614T A614V
615 13.7 L615F L615V
617 12.8 F617L F617V
618 13.2 T618S
632 14.1 P632A P632S
634 12.3 T634A T634I T634P T634S
635 14.5 N635I
636 9.9
637 9.9 E637G E637K E637X
638 14.8 K638D K638Del K638E K638R
639 13.3 I639F I639N
640 9.9 F640Del F640L F640V
641 14.1 S641F S641P
643 14.5
644 14.7 V644F V644I