E857Q Summary

KCNH2 E857Q was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E857Q is not present in gnomAD. E857Q 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 5 individuals unaffected with LQT2 and 5 individuals affected with LQT2.


E857Q 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.

E857Q 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 0.851 -2.732 0.402 2

E857Q has 50 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
44 12.7 C44F C44W C44X
46 13.7 D46E D46Y
49 11.9 C49G C49R
52 14.7 C52W
53 12 G53R G53S
54 11.6 Y54N Y54X
55 6.8 S55L
56 8.8 R56Q
57 6.5 A57P
58 8.3 E58D E58K
59 11.6
60 11.5 M60T
61 13.7 Q61R
62 14.7 R62Q
101 13.7 K101E
736 14.2
740 10.5 C740G C740W
741 7.4 K741R
742 9.1
743 12.3
744 13.4 R744fsX R744G R744P R744Q R744X
745 14.7 G745A G745X
779 12.7
781 11.8
782 13.7 I782fsX I782N
799 13.3 L799sp
800 14.1
802 11.4
803 9.9 D803X D803Y
804 7.7
805 12.4 F805C F805S
806 11.8 G806R
807 13.3 E807X
808 10.9
809 14.1
810 13.7
811 14.7
849 15
850 14.7 D850N
851 12.1
852 10.1
853 10 W853X
854 7.9
855 6.4 S855R
856 4.8
858 5.7 I858T I858V
859 7.3 T859M T859R
860 11.3
861 11.1 N861H N861I
862 14.4 L862P