G773A Summary

KCNH2 G773A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G773A is not present in gnomAD. G773A 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 5 individuals unaffected with LQT2 and 5 individuals affected with LQT2.


G773A 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.

G773A 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 0.975 -5.836 1 0

G773A has 56 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
722 13.9
723 13.2 C723G C723R
726 13.9
745 13.7 G745A G745X
746 10.5 A746S A746X
747 6.8
748 8.3
749 5.6
750 7.5 C750X
751 10.6 L751V
752 9.8 R752P R752Q R752W
753 10.4 A753S
754 12.9
755 14.9
756 14.9 M756V
768 13
769 13
770 8.6
771 7.3 H771fsX H771R
772 3.8
774 3.4 D774X D774Y
775 6.7
776 8.4 L776I L776P
777 11.8
778 13.1 A778T
789 13.8
790 13.3
791 11.7 R791Q R791W
792 13.7
805 14.8 F805C F805S
806 12.7 G806R
807 12.1 E807X
812 14.2 Y812S
814 14.6
815 10.8
816 8.2 G816V
817 4.9
818 4.3 S818A S818L S818W
819 8.1 N819K
820 7.4 G820R
821 9.1 D821E
822 12 V822L V822M
823 14.6 R823fsX R823Q R823T R823W
841 11.8 V841L
842 13.4
843 14
844 9.7 M844V
845 7.3
846 11.6 P846S P846T
847 11.3
848 11.8
849 14.9
860 15
861 13.8 N861H N861I
862 9.8 L862P
863 9.7 R863P R863X