A797V Summary

KCNH2 A797V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A797V is not present in gnomAD. A797V 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.


A797V 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.

A797V 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 0.847 -3.857 0.996 0

A797V has 79 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
10 14.4
11 14 Q11H Q11L
12 10.3 N12D
13 13.3 T13N
14 12.9
15 9.8 L15V
16 12.5 D16A
18 14.3 I18M
19 12.4 I19F
29 13.9 F29L F29S F29V
30 12.2 I30Del I30T
31 9.1 I31S
32 10 A32T
33 9.7 N33T
34 13.5 A34T
35 13.5 R35W
36 12 V36X
39 13 C39R C39X
40 9.2
41 8.4 V41A
42 4.6 I42N
43 8.3 Y43C Y43D
44 9.9 C44F C44W C44X
45 13.7 N45D N45K
55 14.8 S55L
56 10.2 R56Q
57 12 A57P
59 11.9
60 7.5 M60T
61 8.9 Q61R
62 13.5 R62Q
63 14.5 P63H
64 14.7 C64R C64Y
123 14.1
124 11.6 M124R M124T
125 14.5
126 14.9
766 14.7
768 14.5
769 13.6
770 13.1
780 14.2
782 12.4 I782fsX I782N
785 12.6 G785D G785fsX G785S
786 9.5
787 7.5
788 5 E788D E788K
789 4
790 7.1
791 9.8 R791Q R791W
792 12.4
793 12.6 D793N
794 9 V794D V794I
795 5.8 V795I
796 3.9 V796Del V796L
798 4.1 I798fsX
799 5.9 L799sp
800 9.6
801 14 K801T
802 15
803 10.7 D803X D803Y
804 12.5
805 10.3 F805C F805S
806 12.7 G806R
818 14.4 S818A S818L S818W
819 11.2 N819K
820 10.3 G820R
821 10.7 D821E
822 9 V822L V822M
823 10.2 R823fsX R823Q R823T R823W
824 10.9
825 10.8
826 13.8 T826A T826I
828 13.8
858 13.2 I858T I858V
859 9.1 T859M T859R
860 7
861 12.6 N861H N861I
862 11.5 L862P