F852L Summary

KCNH2 F852L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F852L is not present in gnomAD. F852L 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.


F852L 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.

F852L 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 0.928 -5.518 0.942 0

F852L has 52 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 12.3
737 11.6 L737P
740 10.6 C740G C740W
741 9.9 K741R
742 5.5
743 7
744 11.5 R744fsX R744G R744P R744Q R744X
745 8.8 G745A G745X
746 10.1 A746S A746X
747 12.4
749 13.9
750 10.5 C750X
751 11.7 L751V
753 13 A753S
754 10.1
755 14.2
757 14.2
758 12.8
778 14.6 A778T
779 10.6
781 11.2
804 11.2
806 13.7 G806R
807 13.8 E807X
808 10.6
809 9.9
810 9.8
811 13.8
833 12.2
835 13.7 R835fsX R835Q R835W
837 14.2 D837G D837N D837Y
838 8.8 L838R
839 10.8
840 14.3 E840Q
841 10.2 V841L
842 7.6
843 12.4
844 13.9 M844V
845 11
846 11.1 P846S P846T
847 11.6
848 5.6
849 6
850 7.9 D850N
851 6.3
853 4.2 W853X
854 7.1
855 6.2 S855R
856 5.4
857 10.1 E857X
858 10.7 I858T I858V
859 14.7 T859M T859R