D850G Summary

KCNH2 D850G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D850G is not present in gnomAD. D850G 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 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


D850G 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.

D850G 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 0.898 -5.618 0.885 -2

D850G has 28 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 11.6
743 13.7
745 11.2 G745A G745X
746 12.6 A746S A746X
747 14
750 13.5 C750X
808 14
809 12.8
810 9.7
811 13.8
838 13.8 L838R
839 13.1
841 13.1 V841L
842 9.1
843 11.7
844 13.7 M844V
845 11.5
846 7.2 P846S P846T
847 7.4
848 7.4
849 3.8
851 6.3
852 7.9
853 7.6 W853X
854 7.4
855 9.6 S855R
856 11.2
857 14.7 E857X