A746P Summary

KCNH2 A746P was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A746P is not present in gnomAD. A746P has been functionally characterized in 0 papers. This residue is located in a Non_Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


A746P 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.

A746P 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 0.925 -4.422 0.994 -1

A746P has 43 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
730 12.7
733 14.7
736 13.1
737 9.2 L737P
738 11.6 Q738X
739 14 H739fsX
740 11.7 C740G C740W
741 12.3 K741R
742 8.5
743 7.4
744 8.1 R744fsX R744G R744P R744Q R744X
745 3.4 G745A G745X
747 3.8
748 7.2
749 8
750 6.1 C750X
751 6.6 L751V
752 11.5 R752P R752Q R752W
753 11.3 A753S
754 10.5
755 13.2
771 13.6 H771fsX H771R
772 11.2
773 10.5
774 12.5 D774X D774Y
817 13.4
818 14.5 S818A S818L S818W
838 14.8 L838R
841 12.4 V841L
842 12
844 14.1 M844V
845 9.4
846 11.8 P846S P846T
847 9.7
848 6.4
849 11
850 12.6 D850N
851 8
852 10.1
853 14.1 W853X
854 14
855 11.9 S855R
856 13.8