D836Y Summary

KCNH2 D836Y was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D836Y is not present in gnomAD. D836Y has been functionally characterized in 0 papers. This residue is located in a Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 5 individuals unaffected with LQT2 and 5 individuals affected with LQT2.


D836Y 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.

D836Y 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 0.844 -5.056 0.992 -3

D836Y has 35 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
753 14 A753S
754 13.2
756 14.7 M756V
757 9.4
758 13
759 13.1 K759N
775 12.3
776 12.1 L776I L776P
777 8
778 9.9 A778T
779 11.7
780 14.4
807 13.9 E807X
808 14.3
809 10.2
810 14.1
813 11.5
814 13.2
815 10.6
816 13.1 G816V
832 12.2
833 9.3
834 6.1 H834R
835 5.2 R835fsX R835Q R835W
837 4.9 D837G D837N D837Y
838 7.5 L838R
839 6.3
840 6.4 E840Q
840 14.2 E840Q
841 10.4 V841L
842 11.5
843 11.2
844 13.7 M844V
844 14.2 M844V
853 14.8 W853X