G800V Summary

KCNH2 G800V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G800V is not present in gnomAD. G800V 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 4 individuals unaffected with LQT2 and 6 individuals affected with LQT2.


G800V 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.

G800V 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 0.947 -8.087 0.995 -3

G800V has 74 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
12 14.9 N12D
13 14.4 T13N
15 12.2 L15V
16 10.3 D16A
17 14.3
18 14.3 I18M
19 10 I19F
20 12.4 R20G R20L
23 13.1
29 13.3 F29L F29S F29V
30 14.5 I30Del I30T
31 13.1 I31S
41 14.3 V41A
42 11.4 I42N
43 8.1 Y43C Y43D
44 9.3 C44F C44W C44X
45 10.5 N45D N45K
46 10.3 D46E D46Y
47 14.3 G47C G47V
48 15
49 13.7 C49G C49R
55 13.8 S55L
56 8.2 R56Q
57 13.4 A57P
59 14.5
60 11.8 M60T
735 12.9 S735L
736 13
739 13.8 H739fsX
740 13 C740G C740W
741 14.9 K741R
761 14.4
762 14.4
763 12.5
764 14.8
765 14.8
769 14.2
779 14.7
780 12.3
781 10.7
782 5.3 I782fsX I782N
783 7.4 S783P
784 9.3 R784G R784Q R784W
785 5.1 G785D G785fsX G785S
786 5.6
787 6.1
788 9.5 E788D E788K
789 11.2
790 14.9
795 14.4 V795I
796 13.4 V796Del V796L
797 9.6 A797T
798 6.9 I798fsX
799 4.2 L799sp
801 4.5 K801T
802 6.5
803 4.6 D803X D803Y
804 9.2
805 9.8 F805C F805S
806 14.3 G806R
822 12.5 V822L V822M
823 14.4 R823fsX R823Q R823T R823W
824 10.8
825 10.3
826 10 T826A T826I
827 14
828 8.6
829 10.1 D829A D829E
830 10.1
831 12.2
857 14.1 E857X
858 12.9 I858T I858V
859 9.4 T859M T859R
860 11.6