D821N Summary

KCNH2 D821N was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D821N is not present in gnomAD. D821N 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 7 individuals unaffected with LQT2 and 3 individuals affected with LQT2.


D821N 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.

D821N 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 0.486 -3.728 0.392 1

D821N has 60 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
10 14.6
11 14.1 Q11H Q11L
12 13.2 N12D
42 14.7 I42N
696 14.7 R696C R696H
722 14.8
723 11.3 C723G C723R
724 14.7 C723X L724X
726 14.5
727 14.4
747 12.5
748 9.7
749 11.1
750 14.3 C750X
751 14.7 L751V
752 11.3 R752P R752Q R752W
763 14.6
766 11.3
767 11.2 D767X
768 7.2
769 8.6
770 5.9
771 4.9 H771fsX H771R
772 5.6
773 9.1
774 8.7 D774X D774Y
775 13.3
776 11.9 L776I L776P
778 14.5 A778T
780 13.2
786 15
787 11.3
788 9.8 E788D E788K
789 6.8
790 5
791 7.7 R791Q R791W
792 7.9
793 9.2 D793N
794 9.6 V794D V794I
795 10.7 V795I
796 10.4 V796Del V796L
797 10.7 A797T
798 13.9 I798fsX
799 13.2 L799sp
805 11.8 F805C F805S
806 12.7 G806R
807 14.9 E807X
816 14.6 G816V
817 12.7
818 8.3 S818A S818L S818W
819 7.8 N819K
820 3.9 G820R
822 5 V822L V822M
823 5.9 R823fsX R823Q R823T R823W
824 10.9
825 13.6
860 11.8
861 14.3 N861H N861I
862 10.3 L862P
863 13.6 R863P R863X