A430T Summary

KCNH2 A430T was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A430T is not present in gnomAD. A430T 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 5 individuals unaffected with LQT2 and 5 individuals affected with LQT2.


A430T 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.

A430T 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 0.783 -3.507 0.243 0

A430T has 51 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
421 14.4 T421fsX T421M
422 12.9 A422T
423 11.8
424 11.4
425 9
426 6.4 P426H
427 6.8 Y427C Y427H Y427S
428 6.1 S428fsX S428L S428X
429 3.6 A429P A429V
431 4 F431L
432 5.8
452 14.8
520 12
521 13.4
522 9.3 G522E
523 9.4
524 13.4
525 10.9 K525N
526 10.8
527 14.7
528 13.8 R528P R528W R528X
529 13.6
561 14.1 A561P A561T A561V
562 10.6 H562P H562Q H562R
563 11.5 W563C W563G W563X
564 12.3 L564L
565 9.4
566 6.2 C566F C566G C566R C566S
567 8.7 I567M I567T
568 11.9 W568C
569 6.2 Y569C Y569H Y569X
570 6.9
571 10.8 I571L I571V
572 10.8 G572C G572D G572R G572S
573 8.6
574 9.5 M574L M574V
575 14.5 E575K
576 14.8
585 13.9 W585C
586 13.7 L586M
605 14.9 P605L
606 14.2 S606Del S606F S606P
607 10.4
608 14.5
609 13.8 D609G D609N
610 10.4
611 10.2 Y611D
612 14.2 V612A V612L
613 14.4 T613A T613K T613L T613M
614 12 A614T A614V
615 13.8 L615F L615V