G745W Summary

KCNH2 G745W was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G745W is not present in gnomAD. G745W 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.


G745W 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.

G745W 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 0.885 -7.715 0.999 -3

G745W has 36 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 14.8
736 12.9
737 9.8 L737P
738 11.8 Q738X
739 13.1 H739fsX
740 10.3 C740G C740W
741 9.6 K741R
742 6.3
743 6.9
744 6.2 R744fsX R744G R744P R744Q R744X
746 3.4 A746S A746X
747 7.1
748 10.4
749 11.2
750 8.8 C750X
751 9.1 L751V
752 14.6 R752P R752Q R752W
753 13.8 A753S
754 12.1
772 14.5
773 13.7
841 13.9 V841L
842 12.7
845 11.4
846 12.4 P846S P846T
847 10
848 6.5
849 10.4
850 11.2 D850N
851 5.5
852 8.8
853 12.6 W853X
854 11.3
855 8.9 S855R
856 11.5
857 14.7 E857X