H831N Summary

KCNH2 H831N was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. H831N is not present in gnomAD. H831N 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.


H831N 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.

H831N 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 0.844 -5.932 0.943 0

H831N has 64 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
686 14.7
687 12.9
707 13.3
713 14.5 M713V
728 14.3
729 10.9
730 12.5
731 12.4 H731R
732 8.8
733 6.6
734 11 R734C R734H
735 7.8 S735L
736 6.7
737 10.4 L737P
738 13.1 Q738X
739 12.6 H739fsX
740 11.3 C740G C740W
742 14.4
743 11.9
751 14.2 L751V
753 14.7 A753S
754 11.6
755 10.1
756 13.4 M756V
757 12.4
758 6.4
759 7.2 K759N
760 5.6
761 6.4
762 8.9
763 10.9
764 14.3
769 12.3
777 14.5
778 11.3 A778T
779 9.5
780 7.8
781 5.5
782 7 I782fsX I782N
783 6.9 S783P
784 10.1 R784G R784Q R784W
785 11.9 G785D G785fsX G785S
786 14.1
787 12.4
799 13.3 L799sp
800 12.2
801 11.9 K801T
802 10.6
803 10.8 D803X D803Y
804 10.4
805 10.4 F805C F805S
806 13.9 G806R
822 15 V822L V822M
824 14.7
826 14.9 T826A T826I
828 10.3
829 7.4 D829A D829E
830 4.6
832 6.6
833 8.4
834 12 H834R
837 14 D837G D837N D837Y
838 13.6 L838R
858 14.8 I858T I858V