D767N Summary

KCNH2 D767N was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D767N is not present in gnomAD. D767N 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 6 individuals unaffected with LQT2 and 4 individuals affected with LQT2.


D767N 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.

D767N 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 0.899 -4.863 0.975 1

D767N has 67 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
5 14.9
6 12.5 G6R
7 9.1
8 11.8
9 12.1 A9T A9V
10 10.5
11 13.6 Q11H Q11L
12 13.5 N12D
13 13.8 T13N
481 13.3
692 13.2
693 12.2 L693X
695 11.9
696 7.4 R696C R696H
697 11.8 L697X
698 14 E698K E698X
699 9 E699D
700 8.5
701 14.5
702 14.4
703 10.2
704 12.6 A704T A704V
707 14.5
719 14.5
720 12.4
721 9.8 P721L
722 12.6
723 8.1 C723G C723R
724 8.8 C723X L724X
725 13.5 Q725fsX Q725R
726 13.3
727 11.9
728 14.8
752 13.6 R752P R752Q R752W
760 14.7
761 10.4
762 10.2
763 5.6
764 4.5
765 5.7
766 3.4
768 4.9
769 6.6
770 10
771 10.7 H771fsX H771R
780 13.3
782 14.4 I782fsX I782N
785 13.3 G785D G785fsX G785S
786 11.7
787 10.1
788 11.3 E788D E788K
789 13
790 12.6
799 14.5 L799sp
805 14.3 F805C F805S
820 14.3 G820R
821 11.2 D821E
822 8.5 V822L V822M
823 7.1 R823fsX R823Q R823T R823W
824 5.6
825 9.1
826 9.7 T826A T826I
827 9.8
828 8.9
829 12.5 D829A D829E
830 11.2
832 14.4