E878Q Summary

KCNH2 E878Q was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E878Q is not present in gnomAD. E878Q 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.

E878Q 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.

E878Q 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 0.393 -1.19 0.002 1

E878Q 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
863 14.7 R863P R863X
864 14.2 D864G D864sp
865 13.7 T865S
866 13.2 N866S N866X
867 12.6 M867T
868 12
869 11.4 P869L
870 10.7
871 10.1 S871F S871X
872 9.3 P872fsX P872L
873 8.5 G873C G873fsX G873S G873X
874 7.6
875 6.6 T875M T875X
876 5.4 E876fsX E876X
877 3.8
879 3.8
880 5.4 G880V
881 6.6 F881I
882 7.6 S882G
883 8.5 R883G R883Q R883W R883X
884 9.3 Q884X
885 10.1 R885C R885H R885P R885S R885X
886 10.7 K886fsX
887 11.4 R887C R887G R887H R887S
888 12 K888X
889 12.6 L889M L889V
890 13.2 S890C
891 13.7 F891X
892 14.2 R892C R892H
893 14.7 R893X