E699K Summary

KCNH2 E699K was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E699K is not present in gnomAD. E699K 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.


E699K 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.

E699K 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 0.917 -3.839 0.999 1

E699K has 62 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 11.5
4 8.2
5 7
6 6.3 G6R
7 6.6
8 10
9 12.5 A9T A9V
10 13.3
402 13.7 H402R
403 12.6
476 11.7 V476I
477 13.9
478 12.4 A478D
479 13.7
480 12.4 E480V
481 9.2
482 11.6 V482A
673 13.7
677 12.3 M677T
680 12.4
681 13.8 R681W
684 13.8
689 13.7
690 13.7
691 12.2
692 10.8
693 9.8 L693X
694 9.8 R694C R694H
695 6.2
696 6.6 R696C R696H
697 6.9 L697X
698 5.9 E698K E698X
700 6.5
701 8.5
702 6.7
703 7.2
704 9.6 A704T A704V
705 12.7 W705fsX W705X
706 11.3 S706C S706F
707 13.8
708 14.9
719 13.7
720 11.2
721 12.5 P721L
723 13.4 C723G C723R
724 10.4 C723X L724X
727 13.3
728 14.3
762 13.2
763 11.2
764 8
765 8.5
766 9.1
767 9 D767X
768 12.7
769 15
823 14.8 R823fsX R823Q R823T R823W
824 12.9
825 14.6
826 13.9 T826A T826I
827 10.9
828 14.5