D864V Summary

KCNH2 D864V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D864V is not present in gnomAD. D864V 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 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.


D864V 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.

D864V 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 0.903 -7.374 0.999 -3

D864V 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
849 14.7
850 14.2 D850N
851 13.7
852 13.2
853 12.6 W853X
854 12
855 11.4 S855R
856 10.7
857 10.1 E857X
858 9.3 I858T I858V
859 8.5 T859M T859R
860 7.6
861 6.6 N861H N861I
862 5.4 L862P
863 3.8 R863P R863X
865 3.8 T865S
866 5.4 N866S N866X
867 6.6 M867T
868 7.6
869 8.5 P869L
870 9.3
871 10.1 S871F S871X
872 10.7 P872fsX P872L
873 11.4 G873C G873fsX G873S G873X
874 12
875 12.6 T875M T875X
876 13.2 E876fsX E876X
877 13.7
878 14.2 E878D
879 14.7