G816A Summary

KCNH2 G816A was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G816A is not present in gnomAD. G816A 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.


G816A 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.

G816A 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 0.834 -5.543 0.972 0

G816A has 49 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
747 14.2
749 12.4
750 13.4 C750X
753 14.4 A753S
770 11.9
771 13.3 H771fsX H771R
772 11
773 8.2
774 8.2 D774X D774Y
775 5.6
776 5.1 L776I L776P
777 8.3
778 9.7 A778T
779 12.1
780 13.4
805 13.3 F805C F805S
806 9.1 G806R
807 6.1 E807X
808 9.5
809 9.7
810 12.9
811 11.1
812 6.7 Y812S
813 9.1
814 7.6
815 4.1
817 4.5
818 6.7 S818A S818L S818W
819 10.5 N819K
820 11.6 G820R
821 14.6 D821E
833 14.6
834 13 H834R
835 8.6 R835fsX R835Q R835W
836 13.1
839 14.5
840 14.8 E840Q
841 13.4 V841L
842 14.7
843 12.5
844 8.3 M844V
845 10
846 12.2 P846S P846T
847 13.9
858 14.1 I858T I858V
860 14
861 10.2 N861H N861I
862 8.1 L862P
863 8.2 R863P R863X