I868L Summary

KCNH2 I868L was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. I868L is not present in gnomAD. I868L 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.

I868L 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.

I868L 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 0.647 -0.541 0.07 2

I868L 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
853 14.7 W853X
854 14.2
855 13.7 S855R
856 13.2
857 12.6 E857X
858 12 I858T I858V
859 11.4 T859M T859R
860 10.7
861 10.1 N861H N861I
862 9.3 L862P
863 8.5 R863P R863X
864 7.6 D864G D864sp
865 6.6 T865S
866 5.4 N866S N866X
867 3.8 M867T
869 3.8 P869L
870 5.4
871 6.6 S871F S871X
872 7.6 P872fsX P872L
873 8.5 G873C G873fsX G873S G873X
874 9.3
875 10.1 T875M T875X
876 10.7 E876fsX E876X
877 11.4
878 12 E878D
879 12.6
880 13.2 G880V
881 13.7 F881I
882 14.2 S882G
883 14.7 R883G R883Q R883W R883X