G911R Summary

KCNH2 G911R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G911R is not present in gnomAD. G911R has been functionally characterized in 0 papers. This residue is located in a Non_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.

G911R 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.

G911R 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 0.637 0.092 0.151 0

G911R 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
896 14.7 D896fsX
897 14.2 K897fsX K897N K897R K897T K897X
898 13.7
899 13.2 T899M T899X
900 12.6 E900X
901 12 Q901fsX
902 11.4
903 10.7 G903R
904 10.1 E904X
905 9.3 V905M
906 8.5 S906L
907 7.6 A907X
908 6.6 L908fsX L908X
909 5.4 G909X
910 3.8 P910fsX P910L
912 3.8 R912Q R912W R912X
913 5.4 A913V
914 6.6
915 7.6 A915fsX A915V A915X
916 8.5
917 9.3 P917L
918 10.1
919 10.7
920 11.4 R920fsX R920G R920Q R920W
921 12
922 12.6 R922fsX R922Q R922W
923 13.2 P923fsX P923L P923Q P923X
924 13.7 G924A G924E G924V G924W G924X
925 14.2 G925A G925E G925fsX G925R G925V G925X
926 14.7 P926fsX P926L P926S P926X