G924R Summary

KCNH2 G924R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G924R is not present in gnomAD. G924R 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.

G924R 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.

G924R 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 0.548 -0.798 0.998 0

G924R has 30 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
909 14.7 G909X
910 14.2 P910fsX P910L
911 13.7 G911X
912 13.2 R912Q R912W R912X
913 12.6 A913V
914 12
915 11.4 A915fsX A915V A915X
916 10.7
917 10.1 P917L
918 9.3
919 8.5
920 7.6 R920fsX R920G R920Q R920W
921 6.6
922 5.4 R922fsX R922Q R922W
923 3.8 P923fsX P923L P923Q P923X
925 3.8 G925A G925E G925fsX G925R G925V G925X
926 5.4 P926fsX P926L P926S P926X
927 6.6 W927C W927G W927L W927S W927X
928 7.6 G928E G928fsX
929 8.5
930 9.3
931 10.1 P931L
932 10.7
933 11.4
934 12
935 12.6
936 13.2
937 13.7 S937N
938 14.2
939 14.7