F743C Summary

KCNH2 F743C was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F743C is not present in gnomAD. F743C has been functionally characterized in 0 papers. This residue is located in a Mild_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.


F743C 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.

F743C 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 0.972 -7.548 1 -3

F743C has 56 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
726 14.8
729 13.6
730 11.1
732 14.3
733 9.9
734 12.8 R734C R734H
735 9.8 S735L
736 6.5
737 4.8 L737P
738 8.7 Q738X
739 9.4 H739fsX
740 5.6 C740G C740W
741 8 K741R
742 4
744 6.8 R744fsX R744G R744P R744Q R744X
745 6.9 G745A G745X
746 7.4 A746S A746X
747 10.2
748 11.8
749 11.4
750 8.8 C750X
751 7 L751V
752 12.9 R752P R752Q R752W
753 11 A753S
754 7.8
755 10.3
756 14.5 M756V
757 13.4
758 10
779 12
780 14.9
781 9.2
782 13.7 I782fsX I782N
783 13.9 S783P
802 11.8
803 13.6 D803X D803Y
804 11.3
831 11.9
832 15
833 12.3
838 11.4 L838R
841 11.9 V841L
842 11.7
845 12.4
847 14.5
848 8
849 11.6
850 13.7 D850N
851 9.2
852 7
853 10.9 W853X
854 12.2
855 9 S855R
856 8.8
857 12.3 E857X
858 13.5 I858T I858V