F848L Summary

KCNH2 F848L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F848L is not present in gnomAD. F848L 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.


F848L 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.

F848L 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 0.884 -5.545 0.768 0

F848L has 47 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
736 14.3
737 11.8 L737P
740 13.1 C740G C740W
741 12.9 K741R
742 8
743 8
744 11.7 R744fsX R744G R744P R744Q R744X
745 6.5 G745A G745X
746 6.4 A746S A746X
747 7.5
748 12.2
749 9.7
750 6.4 C750X
751 9.3 L751V
752 14.1 R752P R752Q R752W
753 10.7 A753S
754 9.3
755 13.6
757 14.1
758 14.2
772 14.2
773 11.8
774 13.5 D774X D774Y
775 13.8
779 15
809 13.6
810 13.1
817 12.6
833 14.9
838 10.3 L838R
839 11.6
840 13.5 E840Q
841 8.3 V841L
842 6.3
843 10.5
844 10.3 M844V
845 6.4
846 7.1 P846S P846T
847 7
849 4.8
850 7.4 D850N
851 5.7
852 5.6
853 8.7 W853X
854 10.5
855 9.8 S855R
856 10.7