F758I Summary

KCNH2 F758I was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. F758I is not present in gnomAD. F758I 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.


F758I 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.

F758I 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 0.853 -5.836 0.739 0

F758I has 65 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
687 14.6
713 14.7 M713V
714 13.3
717 13.9 L717P
725 12.9 Q725fsX Q725R
726 11.1
727 13.9
728 12.2
729 7.9
730 10.2
731 12.7 H731R
732 9.3
733 6.2
734 12.8 R734C R734H
735 10.7 S735L
736 8.3
737 9.2 L737P
738 13.8 Q738X
739 14.9 H739fsX
740 12.5 C740G C740W
742 13.2
743 10
749 13.4
750 12.1 C750X
751 10.1 L751V
752 12.2 R752P R752Q R752W
753 8.7 A753S
754 5.9
755 5
756 7.9 M756V
757 6.2
759 5.5 K759N
760 8
761 10.3
762 13.9
777 13
778 10.7 A778T
779 9
780 10
781 7.8
782 12.4 I782fsX I782N
783 12.7 S783P
802 14.8
804 12.7
805 13.4 F805C F805S
806 14.9 G806R
829 13.6 D829A D829E
830 10.4
831 6.4
832 6.7
833 5.3
834 8.8 H834R
835 13.3 R835fsX R835Q R835W
836 13
837 8.7 D837G D837N D837Y
838 8.7 L838R
839 13.1
840 13 E840Q
841 10.9 V841L
842 13.2
845 14.9
848 14.2
852 12.8
853 14.9 W853X
856 14.6