G903W Summary

KCNH2 G903W was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G903W is not present in gnomAD. G903W 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.

G903W 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.

G903W 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 0.801 -2.875 0.758 -2

G903W 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
888 14.7 K888X
889 14.2 L889M L889V
890 13.7 S890C
891 13.2 F891X
892 12.6 R892C R892H
893 12 R893X
894 11.4 R894C R894fsX R894H R894L R894X
895 10.7 T895M T895R
896 10.1 D896fsX
897 9.3 K897fsX K897N K897R K897T K897X
898 8.5
899 7.6 T899M T899X
900 6.6 E900X
901 5.4 Q901fsX
902 3.8
904 3.8 E904X
905 5.4 V905M
906 6.6 S906L
907 7.6 A907X
908 8.5 L908fsX L908X
909 9.3 G909X
910 10.1 P910fsX P910L
911 10.7 G911X
912 11.4 R912Q R912W R912X
913 12 A913V
914 12.6
915 13.2 A915fsX A915V A915X
916 13.7
917 14.2 P917L
918 14.7