G925R Summary

KCNH2 G925R was found in 2 papers (see below) with a total of 1 carrier: 1 had LQT2. G925R is not present in gnomAD. G925R 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.


G925R Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
15840476 2005 1 0 1
22885918 2012 1 0 1
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

G925R 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
-9 0.649 -0.622 0.077 0

G925R 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
910 14.7 P910fsX P910L
911 14.2 G911X
912 13.7 R912Q R912W R912X
913 13.2 A913V
914 12.6
915 12 A915fsX A915V A915X
916 11.4
917 10.7 P917L
918 10.1
919 9.3
920 8.5 R920fsX R920G R920Q R920W
921 7.6
922 6.6 R922fsX R922Q R922W
923 5.4 P923fsX P923L P923Q P923X
924 3.8 G924A G924E G924V G924W G924X
926 3.8 P926fsX P926L P926S P926X
927 5.4 W927C W927G W927L W927S W927X
928 6.6 G928E G928fsX
929 7.6
930 8.5
931 9.3 P931L
932 10.1
933 10.7
934 11.4
935 12
936 12.6
937 13.2 S937N
938 13.7
939 14.2
940 14.7