E929Q Summary

KCNH2 E929Q was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E929Q is not present in gnomAD. E929Q 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.

E929Q 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.

E929Q 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 0.478 -0.872 0.023 1

E929Q 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
914 14.7
915 14.2 A915fsX A915V A915X
916 13.7
917 13.2 P917L
918 12.6
919 12
920 11.4 R920fsX R920G R920Q R920W
921 10.7
922 10.1 R922fsX R922Q R922W
923 9.3 P923fsX P923L P923Q P923X
924 8.5 G924A G924E G924V G924W G924X
925 7.6 G925A G925E G925fsX G925R G925V G925X
926 6.6 P926fsX P926L P926S P926X
927 5.4 W927C W927G W927L W927S W927X
928 3.8 G928E G928fsX
930 3.8
931 5.4 P931L
932 6.6
933 7.6
934 8.5
935 9.3
936 10.1
937 10.7 S937N
938 11.4
939 12
940 12.6
941 13.2
942 13.7
943 14.2
944 14.7 E944D