E807Q Summary

KCNH2 E807Q was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E807Q is not present in gnomAD. E807Q has been functionally characterized in 1 paper. 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 5 individuals unaffected with LQT2 and 5 individuals affected with LQT2.


E807Q 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.

E807Q Reported Functional Data: heterozygously collected

Steady state (S.S.) and peak tail current are relative % to wildtype (100% being no different from wildtype). V0.5 act/inact are the voltages at which half of the maximal current is reached during an activation and inactivation protocol, each is in units of mV and relative to wildtype. Recovery from inactivation (Rec. inact.) and deactivation time (Deactivation) are the ratio of characteristic time constants with wildtype (unitless).

PMID Year Cell type S.S. peak current (%WT) Peak tail current (%WT) V0.5 act V0.5 inact Rec. inact. (%WT) Deactivation (%WT)
11278781 2001 CHO

E807Q Reported Functional Data: homozygously collected

PMID Year Cell type S.S. peak current (%WT) Peak tail current (%WT) V0.5 act V0.5 inact Rec. inact. (%WT) Deactivation (%WT)
11278781 2001 CHO 0

E807Q 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
1 0.964 -2.773 0.999 2

E807Q has 51 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
57 13.6 A57P
61 14.2 Q61R
769 14.9
770 12.2
772 13.5
773 12.1
774 11.6 D774X D774Y
775 10.2
776 5.9 L776I L776P
777 9.3
778 8.3 A778T
779 8.1
780 10.5
781 13.1
789 13.9
804 10.8
805 9.2 F805C F805S
806 4.2 G806R
808 4.2
809 6.8
810 9.6
811 8.5
812 6.6 Y812S
813 10.1
814 11.1
815 8.8
816 6.1 G816V
817 9.5
818 8.6 S818A S818L S818W
819 10.3 N819K
820 11.7 G820R
821 14.9 D821E
822 14 V822L V822M
832 13.9
833 12.2
834 12.6 H834R
835 8.6 R835fsX R835Q R835W
836 13.9
838 12.6 L838R
839 13.1
844 14.3 M844V
852 13.8
853 10.9 W853X
856 12
857 13.3 E857X
858 8.1 I858T I858V
859 11.1 T859M T859R
860 9.6
861 5.5 N861H N861I
862 5.4 L862P
863 9 R863P R863X