H687R Summary

KCNH2 H687R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. H687R is not present in gnomAD. H687R 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.


H687R 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.

H687R 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 0.889 -7.778 0.997 0

H687R has 57 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
678 14.7
679 13.4 R679Q R679W
680 10.5
681 13.1 R681W
682 10.1 E682X
683 5.4
684 6.6
685 9.5 R685C R685H R685P
686 4.2
688 6
689 6.5
690 9.9
691 13.9
692 14.3
693 10.9 L693X
694 11.3 R694C R694H
697 11.8 L697X
698 14.7 E698K E698X
704 13.9 A704T A704V
706 13.6 S706C S706F
707 8.8
708 9.7
709 11.1
710 13.2
711 10.3 I711V
712 12.8 D712N
713 7.9 M713V
714 12
715 13.4 A715A A715sp A715T A715V
716 10.9 V716G
717 10.9 L717P
720 13.5
724 13.9 C723X L724X
725 13.3 Q725fsX Q725R
726 13.3
727 11.9
728 8.2
729 9.7
730 11.9
731 7 H731R
732 6
733 10.4
734 9.9 R734C R734H
735 12.9 S735L
736 15
755 13.8
756 14.8 M756V
758 14.6
759 13.6 K759N
760 9.8
761 13.5
762 11.6
783 14.6 S783P
784 13.7 R784G R784Q R784W
829 12.5 D829A D829E
830 14.5
831 12.9