K608E Summary

KCNH2 K608E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. K608E is not present in gnomAD. K608E 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.


K608E 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.

K608E 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 0.738 -2.952 0.096 1

K608E has 38 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
423 14.9
424 14
427 10.1 Y427C Y427H Y427S
428 14.5 S428fsX S428L S428X
430 14.5
431 10.5 F431L
432 14.1
562 13.4 H562P H562Q H562R
565 13.3
566 13.7 C566F C566G C566R C566S
569 12.6 Y569C Y569H Y569X
575 14 E575K
586 14.4 L586M
589 12.9 L589P
593 12.3 I593K I593R I593T I593V I593X
594 14.5
595 12.6 K595E K595N
604 12.7 G604C G604D G604S
605 10.1 P605L
606 6.1 S606Del S606F S606P
607 5.8
609 4.8 D609G D609N
610 7.9
611 7.1 Y611D
612 6.4 V612A V612L
613 9.6 T613A T613K T613L T613M
614 11 A614T A614V
615 11.2 L615F L615V
616 13 Y616S
632 14.6 P632A P632S
633 13.7 N633D N633I N633S
634 10.6 T634A T634I T634P T634S
635 6.3 N635I
636 10
637 13 E637G E637K E637X
638 10.2 K638D K638Del K638E K638R
639 9.6 I639F I639N
642 13.4 I642Del I642V