H834R Summary

KCNH2 H834R was found in 0 papers (see below) with a total of 1 carrier: 0 had LQT2. H834R is present in 1 out of 251474 alleles in gnomAD (0.000398%). H834R 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.


H834R 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.

H834R 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 0.589 -2.422 0.001 0

H834R has 44 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
721 14.4 P721L
722 11.1
723 14.7 C723G C723R
733 14.9
753 13.5 A753S
754 11.6
755 12.5
756 12.8 M756V
757 7.9
758 8.8
759 7.7 K759N
760 12.4
761 12
769 13.3
770 13.5
774 14.1 D774X D774Y
775 11.2
776 9.6 L776I L776P
777 5.2
778 5.5 A778T
779 7.8
780 9
781 11.9
804 14.7
805 12.8 F805C F805S
806 12.2 G806R
807 12.6 E807X
808 13.9
809 11.3
813 14.9
815 12.1
816 13 G816V
830 13.5
831 12
832 6.2
833 4.5
835 6.5 R835fsX R835Q R835W
836 6.1
837 4.9 D837G D837N D837Y
838 7.6 L838R
839 9.8
840 10.3 E840Q
841 12 V841L
842 13.6