D774G Summary

KCNH2 D774G was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D774G is not present in gnomAD. D774G 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 3 individuals unaffected with LQT2 and 7 individuals affected with LQT2.


D774G 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.

D774G 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 0.978 -6.809 1 -2

D774G 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
721 14.7 P721L
722 10.7
723 10.4 C723G C723R
724 14.6 C723X L724X
725 14.4 Q725fsX Q725R
726 11.7
727 14.2
730 14.4
746 12.5 A746S A746X
747 8.8
748 9
749 5.5
750 8.2 C750X
751 10.6 L751V
752 8.2 R752P R752Q R752W
753 9 A753S
754 12.3
755 13.4
756 12.6 M756V
757 14.5
768 10.9
769 10.3
770 6.2
771 5.6 H771fsX H771R
772 4.8
773 3.4
775 5
776 6.6 L776I L776P
777 9.2
778 10.5 A778T
779 14.3
780 12.5
789 13.4
790 13.4
791 13.2 R791Q R791W
792 15
805 13.1 F805C F805S
806 11.6 G806R
807 11.6 E807X
812 14.7 Y812S
815 10.4
816 8.2 G816V
817 6.6
818 5.2 S818A S818L S818W
819 9.5 N819K
820 7.7 G820R
821 8.7 D821E
822 10.5 V822L V822M
823 13.5 R823fsX R823Q R823T R823W
832 14.7
834 14.1 H834R
835 13.3 R835fsX R835Q R835W
840 14.9 E840Q
841 11.5 V841L
842 14
843 14.4
844 9.8 M844V
845 8.4
846 13.6 P846S P846T
847 14.1
848 13.5
860 14.8
861 14 N861H N861I
862 9.8 L862P
863 11.7 R863P R863X