F686S Summary

KCNH2 F686S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F686S is not present in gnomAD. F686S 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.


F686S 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.

F686S 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 0.914 -7.778 0.999 -3

F686S has 44 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
669 14.4 G669C G669R G669X
678 13.1
679 12.2 R679Q R679W
680 10.8
681 12.5 R681W
682 7.7 E682X
683 6.3
684 7.7
685 8 R685C R685H R685P
687 4.2
688 7.3
689 9.5
690 13.1
693 14.5 L693X
694 13.4 R694C R694H
697 14.3 L697X
703 12.3
704 10.6 A704T A704V
705 11.4 W705fsX W705X
706 9.6 S706C S706F
707 5.8
708 6.2
709 7.1
710 9.8
711 7.7 I711V
712 11.2 D712N
713 7.4 M713V
714 12.5
715 13.5 A715A A715sp A715T A715V
716 11.6 V716G
717 12.8 L717P
728 11.9
729 13.3
731 11.1 H731R
732 9.6
733 13.8
734 13.4 R734C R734H
760 10.7
761 13.5
762 10.5
784 14.2 R784G R784Q R784W
827 14.9
829 12.5 D829A D829E
831 14.7