G806R Summary

KCNH2 G806R was found in 2 papers (see below) with a total of 3 carriers: 3 had LQT2. G806R is not present in gnomAD. G806R 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.


G806R Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
Italy Cohort 2020 2 0 2
Paris Cohort 2020 1 0 1
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

G806R 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
-9 0.451 -7.434 1 -3

G806R has 64 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
56 14 R56Q
57 12 A57P
60 13.3 M60T
61 12.8 Q61R
758 14.9
769 11.8
770 10
771 13.5 H771fsX H771R
772 13
773 12.7
774 11.6 D774X D774Y
775 11.4
776 6.2 L776I L776P
777 9.5
778 7 A778T
779 6.1
780 7.1
781 9.9
782 12 I782fsX I782N
787 12.6
788 15 E788D E788K
789 10.7
790 14.3
791 14.2 R791Q R791W
796 14 V796Del V796L
797 12.7 A797T
799 11.3 L799sp
800 14.3
803 11.2 D803X D803Y
804 7.4
805 5 F805C F805S
807 4.2 E807X
808 6.6
809 9.4
810 12.5
811 12.1
812 10.8 Y812S
813 14
815 11.9
816 9.1 G816V
817 11.6
818 8.9 S818A S818L S818W
819 9.8 N819K
820 10.1 G820R
821 12.7 D821E
822 10.7 V822L V822M
830 13.5
831 13.9
832 11.6
833 10.8
834 12.2 H834R
835 10.4 R835fsX R835Q R835W
838 13 L838R
839 14.7
852 13.7
853 11.8 W853X
856 11.1
857 11.8 E857X
858 6.2 I858T I858V
859 8 T859M T859R
860 6.9
861 5.6 N861H N861I
862 4.6 L862P
863 10.9 R863P R863X