I571T Summary

KCNH2 I571T was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I571T is not present in gnomAD. I571T 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.


I571T 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.

I571T 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 0.948 -4.742 0.999 -1

I571T has 52 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
426 14.6 P426H
429 13.8 A429P A429V
430 10.8
431 12 F431L
561 14.6 A561P A561T A561V
562 14.8 H562P H562Q H562R
563 14.7 W563C W563G W563X
564 10.5 L564L
565 9.7
566 9.6 C566F C566G C566R C566S
567 6.7 I567M I567T
568 5.6 W568C
569 7.3 Y569C Y569H Y569X
570 4
572 4.4 G572C G572D G572R G572S
573 6.8
574 6.7 M574L M574V
575 6.4 E575K
576 10.1
577 12.4
583 12.3 I583V
584 10 G584C G584R G584S
585 7.8 W585C
586 9.6 L586M
587 12.7
588 14.1 N588D N588K
589 14.2 L589P
610 12.3
611 14.2 Y611D
612 15 V612A V612L
613 13.1 T613A T613K T613L T613M
614 10.8 A614T A614V
615 14.4 L615F L615V
616 14.8 Y616S
617 11.4 F617L F617V
618 12.6 T618S
621 14.9 S621N S621R
630 13.2 V630A V630I V630T
631 12.4 S631F
632 10.7 P632A P632S
633 11.7 N633D N633I N633S
634 8.5 T634A T634I T634P T634S
635 10.6 N635I
636 6
637 6.2 E637G E637K E637X
638 11 K638D K638Del K638E K638R
639 9.9 I639F I639N
640 7.5 F640Del F640L F640V
641 11.2 S641F S641P
642 13.6 I642Del I642V
643 12.4
644 12.9 V644F V644I