F781I Summary

KCNH2 F781I was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F781I is not present in gnomAD. F781I 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.


F781I 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.

F781I 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 0.897 -5.786 0.999 0

F781I has 72 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
56 13.5 R56Q
729 14.3
730 14.6
732 13.2
733 9.5
734 13.7 R734C R734H
735 9.1 S735L
736 6.3
737 10 L737P
738 13.2 Q738X
739 11.8 H739fsX
740 8.4 C740G C740W
741 11.6 K741R
742 10.4
743 9.2
744 14.1 R744fsX R744G R744P R744Q R744X
751 13.9 L751V
753 14.9 A753S
754 11.1
755 11.9
757 13.2
758 7.8
759 10.6 K759N
760 10.8
761 10.5
762 13.5
763 13.9
769 13.1
770 14.6
776 13.6 L776I L776P
777 13.3
778 9.6 A778T
779 6
780 6.4
782 5.9 I782fsX I782N
783 8.2 S783P
784 12.6 R784G R784Q R784W
785 12.7 G785D G785fsX G785S
786 14.2
787 11.8
799 10.9 L799sp
800 10.7
801 11.4 K801T
802 8.3
803 7.4 D803X D803Y
804 5.3
805 7.2 F805C F805S
806 9.9 G806R
807 13.1 E807X
808 13.1
809 13.8
822 14.2 V822L V822M
828 12.5
829 11 D829A D829E
830 7.5
831 5.5
832 8.1
833 7.7
834 11.9 H834R
835 14.1 R835fsX R835Q R835W
837 13.8 D837G D837N D837Y
838 11.4 L838R
852 11.2
853 12.7 W853X
855 13.3 S855R
856 9.8
857 11.8 E857X
858 9.5 I858T I858V
859 10.4 T859M T859R
860 13.1
861 14.4 N861H N861I
862 14.2 L862P