D896E Summary

KCNH2 D896E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D896E is not present in gnomAD. D896E 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.


D896E 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.

D896E 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 0.482 -0.969 0.024 4

D896E 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
881 14.7 F881I
882 14.2 S882G
883 13.7 R883G R883Q R883W R883X
884 13.2 Q884X
885 12.6 R885C R885H R885P R885S R885X
886 12 K886fsX
887 11.4 R887C R887G R887H R887S
888 10.7 K888X
889 10.1 L889M L889V
890 9.3 S890C
891 8.5 F891X
892 7.6 R892C R892H
893 6.6 R893X
894 5.4 R894C R894fsX R894H R894L R894X
895 3.8 T895M T895R
897 3.8 K897fsX K897N K897R K897T K897X
898 5.4
899 6.6 T899M T899X
900 7.6 E900X
901 8.5 Q901fsX
902 9.3
903 10.1 G903R
904 10.7 E904X
905 11.4 V905M
906 12 S906L
907 12.6 A907X
908 13.2 L908fsX L908X
909 13.7 G909X
910 14.2 P910fsX P910L
911 14.7 G911X