E840K Summary

KCNH2 E840K was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E840K is not present in gnomAD. E840K has been functionally characterized in 0 papers. This residue is located in a Mild_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.


E840K 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.

E840K 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 0.869 -3.691 0.771 1

E840K has 39 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
749 14
750 12.6 C750X
753 9.9 A753S
754 10.5
755 13.2
756 12.2 M756V
757 7.9
758 13
759 14.9 K759N
774 14.9 D774X D774Y
775 11.3
777 13.7
777 13.9
778 14.4 A778T
779 14.4
809 12.2
810 14.8
813 14.3
814 14.4
815 11.9
816 14.8 G816V
833 11.5
834 10.3 H834R
835 10 R835fsX R835Q R835W
836 6.4
836 14.2
837 5.9 D837G D837N D837Y
838 6.9 L838R
839 5.4
841 5.6 V841L
842 7.8
843 6.3
844 7.5 M844V
845 10.3
846 13 P846S P846T
848 13.5
849 13
852 14.3
853 14.3 W853X