I798L Summary

KCNH2 I798L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I798L is not present in gnomAD. I798L 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.


I798L 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.

I798L 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 0.826 -1.929 0.725 1

I798L has 76 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 13.7
11 14.1 Q11H Q11L
12 9.9 N12D
13 11.4 T13N
14 11.1
15 7.3 L15V
16 9 D16A
17 12.2
18 11 I18M
19 8.5 I19F
20 13.5 R20G R20L
22 13.8 F22S F22Y
23 14.2
29 10.8 F29L F29S F29V
30 10.4 I30Del I30T
31 7.3 I31S
32 10.1 A32T
33 11.1 N33T
34 14.8 A34T
36 14.6 V36X
39 14.5 C39R C39X
40 11
41 9 V41A
42 5 I42N
43 5 Y43C Y43D
44 7.8 C44F C44W C44X
45 10.6 N45D N45K
46 12.9 D46E D46Y
48 13.8
49 14.5 C49G C49R
55 14.3 S55L
56 8.9 R56Q
57 12.8 A57P
59 12
60 8.5 M60T
61 11.6 Q61R
64 15 C64R C64Y
123 14.2
124 11.1 M124R M124T
125 14
126 12.8
127 14.2
766 14.9
782 11.2 I782fsX I782N
783 14.1 S783P
785 9.7 G785D G785fsX G785S
786 6.8
787 6.8
788 5.3 E788D E788K
789 7.5
790 10.2
791 13.8 R791Q R791W
794 12 V794D V794I
795 7.9 V795I
796 7.5 V796Del V796L
797 4.1 A797T
799 4.9 L799sp
800 6.9
801 11 K801T
802 12.9
803 9.5 D803X D803Y
804 12.8
805 11.7 F805C F805S
820 14.1 G820R
821 13.9 D821E
822 11.2 V822L V822M
823 11.8 R823fsX R823Q R823T R823W
824 10.5
825 9.2
826 11.6 T826A T826I
828 12.2
830 14.9
858 14.5 I858T I858V
859 10 T859M T859R
860 9.8
862 14.9 L862P