D829E Summary

KCNH2 D829E was found in 0 papers (see below) with a total of 1 carrier: 0 had LQT2. D829E is present in 1 out of 251462 alleles in gnomAD (0.000398%). D829E 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 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


D829E 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.

D829E 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
2 0.763 -3.711 0.972 1

D829E has 55 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
16 14.4 D16A
478 14.6 A478D
479 12.7
686 12.5
687 12.5
688 13.9
700 14.3
703 11.6
704 13.4 A704T A704V
706 14.3 S706C S706F
707 9.7
708 14.1
731 14.2 H731R
732 11.6
733 11.5
734 12.3 R734C R734H
735 9.9 S735L
736 11.4
739 14.4 H739fsX
758 13.6
759 12.8 K759N
760 8.5
761 7.6
762 5.3
763 7
764 9.5
765 11.6
766 14
767 12.5 D767X
769 12.7
780 12
781 11
782 7.4 I782fsX I782N
783 5.1 S783P
784 4.5 R784G R784Q R784W
785 6.7 G785D G785fsX G785S
786 9.6
787 10.1
788 14.8 E788D E788K
799 12.4 L799sp
800 10.1
801 9.1 K801T
802 11.1
803 11.7 D803X D803Y
804 14
805 13.2 F805C F805S
822 14.6 V822L V822M
824 10.8
825 11.9
826 8.5 T826A T826I
827 8.2
828 4.7
830 5.2
831 7.4
832 12.2