E788Q Summary

KCNH2 E788Q was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E788Q is not present in gnomAD. E788Q 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.


E788Q 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.

E788Q 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 0.903 -2.643 0.998 2

E788Q has 71 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
9 12.7 A9T A9V
10 9.6
11 10.2 Q11H Q11L
12 6.7 N12D
13 9.2 T13N
14 10.3
15 7.8 L15V
16 9.6 D16A
17 12.9
18 13.1 I18M
19 11.6 I19F
31 11.2 I31S
32 12.7 A32T
33 11.8 N33T
36 14.8 V36X
40 13.3
41 12.7 V41A
42 8.3 I42N
43 10.3 Y43C Y43D
44 13.1 C44F C44W C44X
56 13.6 R56Q
60 12.3 M60T
61 13.9 Q61R
123 14
124 12.2 M124R M124T
763 12.1
764 12.8
765 11.2
766 10
767 11.3 D767X
768 11.3
769 11.4
770 12.1
771 13.7 H771fsX H771R
780 14.1
782 12.1 I782fsX I782N
785 10.3 G785D G785fsX G785S
786 6.6
787 5.3
789 5.4
790 6.4
791 11.8 R791Q R791W
792 12.2
793 11.3 D793N
794 9.7 V794D V794I
795 6.3 V795I
796 7.5 V796Del V796L
797 5 A797T
798 5.3 I798fsX
799 7 L799sp
800 9.5
801 13.6 K801T
803 12.1 D803X D803Y
804 14.6
805 11.4 F805C F805S
806 15 G806R
819 13.5 N819K
820 11.2 G820R
821 9.8 D821E
822 7.3 V822L V822M
823 6.5 R823fsX R823Q R823T R823W
824 6.4
825 6.1
826 9.7 T826A T826I
827 14.2
828 10.5
829 14.8 D829A D829E
830 13.8
859 12.7 T859M T859R
860 11
862 14.2 L862P