G766V Summary

KCNH2 G766V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G766V is not present in gnomAD. G766V 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.


G766V 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.

G766V 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 0.976 -8.754 1 -3

G766V has 62 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
5 13.7
6 11 G6R
7 6.7
8 8.8
9 8.8 A9T A9V
10 7.2
11 10.3 Q11H Q11L
12 10.7 N12D
13 10.9 T13N
14 15
15 14.7 L15V
16 13.9 D16A
479 14.4
480 13.5 E480V
481 11.5
482 13.4 V482A
692 12.4
693 12.7 L693X
695 11
696 7.9 R696C R696H
697 13.1 L697X
698 14.4 E698K E698X
699 9.1 E699D
700 10.8
703 11.6
704 14.7 A704T A704V
721 13 P721L
723 10.9 C723G C723R
724 11.1 C723X L724X
727 13.2
761 13.4
762 12.5
763 7.7
764 5.8
765 4.3
767 3.4 D767X
768 6.5
769 9.2
770 11.8
771 12 H771fsX H771R
785 13.3 G785D G785fsX G785S
786 11.1
787 10.3
788 10 E788D E788K
789 12.7
790 11.6
793 13.8 D793N
795 14.5 V795I
797 14.7 A797T
798 14.9 I798fsX
799 14.6 L799sp
820 14.7 G820R
821 11.3 D821E
822 9.3 V822L V822M
823 6 R823fsX R823Q R823T R823W
824 5
825 7.3
826 8.9 T826A T826I
827 9.8
828 9.8
829 14 D829A D829E
830 13.4