G909V Summary

KCNH2 G909V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G909V is not present in gnomAD. G909V 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.

G909V 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.

G909V 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 0.632 -1.88 0.994 -2

G909V 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
894 14.7 R894C R894fsX R894H R894L R894X
895 14.2 T895M T895R
896 13.7 D896fsX
897 13.2 K897fsX K897N K897R K897T K897X
898 12.6
899 12 T899M T899X
900 11.4 E900X
901 10.7 Q901fsX
902 10.1
903 9.3 G903R
904 8.5 E904X
905 7.6 V905M
906 6.6 S906L
907 5.4 A907X
908 3.8 L908fsX L908X
910 3.8 P910fsX P910L
911 5.4 G911X
912 6.6 R912Q R912W R912X
913 7.6 A913V
914 8.5
915 9.3 A915fsX A915V A915X
916 10.1
917 10.7 P917L
918 11.4
919 12
920 12.6 R920fsX R920G R920Q R920W
921 13.2
922 13.7 R922fsX R922Q R922W
923 14.2 P923fsX P923L P923Q P923X
924 14.7 G924A G924E G924V G924W G924X