H739P Summary

KCNH2 H739P was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. H739P is not present in gnomAD. H739P 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.


H739P 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.

H739P 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 0.703 -5.034 0.93 -2

H739P has 32 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
46 13.3 D46E D46Y
730 12.5
731 13.1 H731R
732 13.7
733 10.9
734 8.5 R734C R734H
735 5.6 S735L
736 6.7
737 7.5 L737P
738 4.5 Q738X
740 5.3 C740G C740W
741 9 K741R
742 10.5
743 9.4
744 7.5 R744fsX R744G R744P R744Q R744X
745 13.1 G745A G745X
746 14 A746S A746X
751 13.1 L751V
758 14.9
781 11.8
782 12.1 I782fsX I782N
783 9.9 S783P
784 12.2 R784G R784Q R784W
800 13.8
801 10.6 K801T
802 7.6
803 12.1 D803X D803Y
804 13.5
829 14.4 D829A D829E
831 12.6
855 14.4 S855R
856 14.4