E698K Summary

KCNH2 E698K was found in 0 papers (see below) with a total of 3 carriers: 0 had LQT2. E698K is present in 3 out of 282790 alleles in gnomAD (0.001061%). E698K has been functionally characterized in 0 papers. This residue is located in a Non_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


E698K 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.

E698K 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
-4 0.906 -3.872 0.941 1

E698K has 60 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
3 9.1
4 9
5 7
6 9.5 G6R
7 11.1
8 13.9
402 13.4 H402R
403 11.7
476 13.8 V476I
481 13.3
482 15 V482A
540 13.4 D540fsX
541 13.8 R541C R541H
543 14.8 S543fsX
544 11.4 E544A E544fsX
545 14.9
673 11.2
674 13.3 H674fsX H674Y
675 14.8
676 12.4 Q676fsX Q676X
677 8 M677T
678 12.1
679 13.9 R679Q R679W
680 7.9
681 8.1 R681W
682 13.3 E682X
683 11.4
684 8.9
685 12.5 R685C R685H R685P
687 14.7
688 14.9
689 10.1
690 11.2
691 9.9
692 10.5
693 8.8 L693X
694 5.5 R694C R694H
695 6.3
696 8.8 R696C R696H
697 5.3 L697X
699 5.9 E699D
700 9.2
701 7.4
702 6.7
703 11.2
704 11.7 A704T A704V
705 12.7 W705fsX W705X
706 13.4 S706C S706F
716 13.4 V716G
717 14.9 L717P
719 13.9
720 11.2
721 14.4 P721L
724 11.9 C723X L724X
727 13.7
728 13.2
764 13.6
765 14.3
766 14.4
767 14 D767X