H7R Summary

KCNH2 H7R was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. H7R is not present in gnomAD. H7R 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.


H7R 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.

H7R 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 0.565 -4.302 0.174 -1

H7R has 49 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
3 14.4
4 11.3
5 7.7
6 5.1 G6R
8 3.5
9 6.2 A9T A9V
10 7.4
11 10.9 Q11H Q11L
12 13 N12D
13 11.6 T13N
401 14.3
402 12.9 H402R
403 11.5
474 14.1 T474I
475 14.4 Y475C Y475Del
476 11.5 V476I
477 12.9
478 12.7 A478D
479 12.8
480 10 E480V
481 6.9
482 7.8 V482A
483 12.1 V483I
484 13.8
691 12.6
692 10.6
693 12.2 L693X
694 13 R694C R694H
695 7.2
696 8.5 R696C R696H
697 12.4 L697X
698 11.1 E698K E698X
699 6.6 E699D
700 12.1
702 12.4
703 11.5
724 14 C723X L724X
763 12.2
764 8.9
765 6.4
766 6.7
767 9.1 D767X
768 12.5
823 11.9 R823fsX R823Q R823T R823W
824 10.7
825 10.9
826 11.6 T826A T826I
827 10.8
828 14.1