E575D Summary

KCNH2 E575D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E575D is not present in gnomAD. E575D 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.


E575D 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.

E575D 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 0.756 -2.844 0.996 2

E575D has 29 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
430 14.5
567 12.7 I567M I567T
568 11.3 W568C
569 11.3 Y569C Y569H Y569X
570 8.4
571 6.4 I571L I571V
572 5.7 G572C G572D G572R G572S
573 7.5
574 6 M574L M574V
576 6.4
577 7
583 9.8 I583V
584 9.6 G584C G584R G584S
585 10.9 W585C
586 11 L586M
587 11.5
593 14 I593K I593R I593T I593V I593X
597 14.9 Y597C Y597H
608 14
609 14.8 D609G D609N
632 13.4 P632A P632S
633 12.2 N633D N633I N633S
634 8.2 T634A T634I T634P T634S
635 9.7 N635I
636 7.3
637 8.9 E637G E637K E637X
638 12.8 K638D K638Del K638E K638R
639 12.4 I639F I639N
640 12.9 F640Del F640L F640V