G792D Summary

KCNH2 G792D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G792D is not present in gnomAD. G792D 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 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


G792D 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.

G792D 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 0.547 0.42 0.023 1

G792D has 33 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
11 12.4 Q11H Q11L
12 12.3 N12D
33 11.8 N33T
34 13.1 A34T
35 10.2 R35W
36 10.8 V36X
37 13
40 14.3
42 14.3 I42N
123 14.3
747 14.4
748 12
768 13.7
770 13.8
771 11.8 H771fsX H771R
772 10.3
773 13.7
774 15 D774X D774Y
788 12.2 E788D E788K
789 10.4
790 6.2
791 5.9 R791Q R791W
793 3.4 D793N
794 4.8 V794D V794I
795 8.7 V795I
796 9.9 V796Del V796L
797 12.4 A797T
818 13.2 S818A S818L S818W
819 10.4 N819K
820 9.1 G820R
821 7.9 D821E
822 11.9 V822L V822M
823 10.2 R823fsX R823Q R823T R823W