D727E Summary

KCNH2 D727E was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. D727E is not present in gnomAD. D727E 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 8 individuals unaffected with LQT2 and 2 individuals affected with LQT2.


D727E 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.

D727E 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 0.824 -3.891 0.887 1

D727E has 59 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
680 14.6
683 12.3
684 12.8
687 11.9
688 14.3
689 9.6
690 9.4
691 12.4
692 8.9
693 5.8 L693X
694 12 R694C R694H
695 11.9
696 7.2 R696C R696H
697 9.2 L697X
698 13.7 E698K E698X
699 13.3 E699D
700 12.5
716 13.6 V716G
717 10.8 L717P
719 13.7
720 10.2
721 9.9 P721L
722 10.8
723 7.5 C723G C723R
724 5.4 C723X L724X
725 7.9 Q725fsX Q725R
726 4.5
728 4.7
729 6.7
730 5.3
731 7.2 H731R
732 9.1
733 10.3
734 10.9 R734C R734H
735 14.4 S735L
736 14.9
737 12.2 L737P
738 13.4 Q738X
748 10.8
749 11.9
750 14 C750X
751 10.6 L751V
752 6.7 R752P R752Q R752W
753 11.8 A753S
754 13.1
755 9.6
756 10 M756V
757 14.9
758 13.9
766 13.2
767 11.9 D767X
768 9.8
769 13.2
770 13.4
771 10.7 H771fsX H771R
772 14.6
774 14.2 D774X D774Y
821 14.4 D821E
823 14.3 R823fsX R823Q R823T R823W