F860S Summary

KCNH2 F860S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F860S is not present in gnomAD. F860S 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.


F860S 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.

F860S 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 0.88 -7.275 0.997 -3

F860S has 66 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
31 14.3 I31S
32 14.8 A32T
33 14.7 N33T
40 11.5
41 10.6 V41A
42 9.7 I42N
43 12.3 Y43C Y43D
44 11.6 C44F C44W C44X
55 12.2 S55L
56 9.6 R56Q
57 7.8 A57P
58 11.9 E58D E58K
59 10.9
60 6.8 M60T
61 6.6 Q61R
62 11.8 R62Q
63 14.9 P63H
769 13.9
770 12.1
771 14.9 H771fsX H771R
772 13.8
773 15
774 14.8 D774X D774Y
776 12 L776I L776P
778 13.4 A778T
779 12
780 11.4
781 13.1
782 12.3 I782fsX I782N
786 13.9
787 10.5
788 11 E788D E788K
789 6.7
790 10.8
791 10.4 R791Q R791W
794 13.1 V794D V794I
795 11.8 V795I
796 7.9 V796Del V796L
797 7 A797T
798 9.8 I798fsX
799 7.8 L799sp
800 11.6
802 14.4
803 9.7 D803X D803Y
804 8.6
805 7.1 F805C F805S
806 6.9 G806R
807 9.6 E807X
808 11.3
812 14.9 Y812S
816 14 G816V
817 14.8
818 10.9 S818A S818L S818W
819 8.4 N819K
820 9.3 G820R
821 11.8 D821E
822 10.2 V822L V822M
823 13.9 R823fsX R823Q R823T R823W
824 15
856 13.3
857 11.3 E857X
858 7.1 I858T I858V
859 4.7 T859M T859R
861 5.7 N861H N861I
862 6 L862P
863 11.3 R863P R863X