I804F Summary

KCNH2 I804F was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I804F is not present in gnomAD. I804F 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 6 individuals unaffected with LQT2 and 4 individuals affected with LQT2.


I804F 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.

I804F 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 0.89 -3.688 0.885 0

I804F 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
43 14.3 Y43C Y43D
44 12.9 C44F C44W C44X
46 14.4 D46E D46Y
55 11.8 S55L
56 9.2 R56Q
57 9.8 A57P
58 13.7 E58D E58K
59 14.4
60 11.9 M60T
61 14.1 Q61R
733 14.5
735 12.7 S735L
736 10.1
737 13.5 L737P
739 13.5 H739fsX
740 9.4 C740G C740W
741 10.4 K741R
742 10.6
743 11.3
744 14.9 R744fsX R744G R744P R744Q R744X
758 12.7
761 14.2
769 14
770 14.4
776 12.9 L776I L776P
777 14.5
778 10.8 A778T
779 7.1
780 7.9
781 5.3
782 6.9 I782fsX I782N
783 10.7 S783P
784 14.9 R784G R784Q R784W
785 13.1 G785D G785fsX G785S
786 13.6
787 10.8
788 14.6 E788D E788K
789 12.4
797 12.5 A797T
798 12.8 I798fsX
799 8.2 L799sp
800 9.2
801 11.3 K801T
802 8
803 4.9 D803X D803Y
805 5.4 F805C F805S
806 7.4 G806R
807 10.8 E807X
808 10.5
809 13
822 13.2 V822L V822M
828 14
829 14 D829A D829E
830 10.8
831 10.4
832 11.9
833 11.2
834 14.7 H834R
835 14.9 R835fsX R835Q R835W
838 13.6 L838R
852 11.2
853 11.6 W853X
854 13.5
855 11.4 S855R
856 7.5
857 7.7 E857X
858 4.9 I858T I858V
859 5.3 T859M T859R
860 8.6
861 10.2 N861H N861I
862 11 L862P