E900V Summary

KCNH2 E900V was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E900V is not present in gnomAD. E900V 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.

E900V 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.

E900V 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 0.699 -2.835 0.019 -2

E900V 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
885 14.7 R885C R885H R885P R885S R885X
886 14.2 K886fsX
887 13.7 R887C R887G R887H R887S
888 13.2 K888X
889 12.6 L889M L889V
890 12 S890C
891 11.4 F891X
892 10.7 R892C R892H
893 10.1 R893X
894 9.3 R894C R894fsX R894H R894L R894X
895 8.5 T895M T895R
896 7.6 D896fsX
897 6.6 K897fsX K897N K897R K897T K897X
898 5.4
899 3.8 T899M T899X
901 3.8 Q901fsX
902 5.4
903 6.6 G903R
904 7.6 E904X
905 8.5 V905M
906 9.3 S906L
907 10.1 A907X
908 10.7 L908fsX L908X
909 11.4 G909X
910 12 P910fsX P910L
911 12.6 G911X
912 13.2 R912Q R912W R912X
913 13.7 A913V
914 14.2
915 14.7 A915fsX A915V A915X