E847G Summary

KCNH2 E847G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E847G is not present in gnomAD. E847G 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 2 individuals unaffected with LQT2 and 8 individuals affected with LQT2.


E847G 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.

E847G 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 0.878 -4.449 0.988 -2

E847G has 32 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
742 13.9
743 14.5
745 10 G745A G745X
746 9.7 A746S A746X
747 9.4
748 14.6
749 12.6
750 10.5 C750X
751 14.3 L751V
772 13.9
773 11.3
774 14.1 D774X D774Y
775 14.2
815 14.7
816 13.9 G816V
817 10.2
818 13.8 S818A S818L S818W
841 12.6 V841L
842 10.2
843 11.8
844 11.1 M844V
845 8
846 4.6 P846S P846T
848 7
849 7.3
850 7.4 D850N
851 8.5
852 11.6
853 13.4 W853X
854 13.4
855 14 S855R
863 13.4 R863P R863X