H731D Summary

KCNH2 H731D was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. H731D is not present in gnomAD. H731D 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 3 individuals unaffected with LQT2 and 7 individuals affected with LQT2.


H731D 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.

H731D 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 0.843 -8.821 0.866 -1

H731D has 51 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 14.4
683 10.4
684 10.2
685 14.4 R685C R685H R685P
686 11.1
687 7
688 8.3
689 6.3
690 6.8
691 11.4
692 10.2
693 7.8 L693X
694 11.4 R694C R694H
695 14.1
696 12.2 R696C R696H
697 11.8 L697X
707 14.8
713 13.2 M713V
716 14.4 V716G
717 12.6 L717P
720 14
723 14.4 C723G C723R
724 11.5 C723X L724X
725 12.2 Q725fsX Q725R
726 9.5
727 7.2
728 6.2
729 7.1
730 5.9
732 4.4
733 7
734 4.9 R734C R734H
735 9.2 S735L
736 11.1
737 10.5 L737P
738 10.2 Q738X
739 13.1 H739fsX
748 14.7
751 12.5 L751V
752 11.8 R752P R752Q R752W
753 15 A753S
754 14.3
755 10.6
756 12.8 M756V
758 12.7
759 14.4 K759N
760 11.9
783 13.8 S783P
784 14.2 R784G R784Q R784W
829 14.2 D829A D829E
831 12.4