F720V Summary

KCNH2 F720V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F720V is not present in gnomAD. F720V 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.


F720V 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.

F720V 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 0.917 -6.718 0.997 -1

F720V has 60 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
673 14.6
676 10.9 Q676fsX Q676X
677 12.3 M677T
679 11.6 R679Q R679W
680 9.3
681 14.4 R681W
682 14.9 E682X
683 9.7
684 12.2
687 13.5
689 12.9
693 10.6 L693X
694 13.1 R694C R694H
695 13.9
696 10 R696C R696H
697 6.6 L697X
698 11.2 E698K E698X
699 11.2 E699D
700 6.3
701 8.2
702 12.3
703 11.9
704 9.9 A704T A704V
705 13.5 W705fsX W705X
706 14.7 S706C S706F
707 14.7
708 13.7
710 14.1
711 14.8 I711V
712 14.1 D712N
712 13.5 D712N
713 11.9 M713V
714 11
715 9 A715A A715sp A715T A715V
716 6.4 V716G
717 5.5 L717P
718 7.7
719 3.8
721 4.9 P721L
722 9.4
723 9 C723G C723R
724 5.8 C723X L724X
725 6 Q725fsX Q725R
726 9.9
727 10.2
728 8.2
729 11.1
730 14.3
731 14 H731R
732 13.8
752 13.7 R752P R752Q R752W
755 14.6
756 11.8 M756V
761 13.3
762 14
763 13.8
764 13.2
767 12.4 D767X
768 13.2
769 13.8