E722Q Summary

KCNH2 E722Q was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. E722Q is not present in gnomAD. E722Q 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.


E722Q 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.

E722Q 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 0.884 -2.867 0.997 2

E722Q has 53 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
696 13.6 R696C R696H
697 14.3 L697X
700 12.4
714 13.9
715 14.5 A715A A715sp A715T A715V
716 13.7 V716G
717 9.9 L717P
718 10.6
719 10
720 9.4
721 5.4 P721L
723 5.2 C723G C723R
724 7.9 C723X L724X
725 5.5 Q725fsX Q725R
726 7.4
727 10.8
728 11.1
729 10.8
730 13.2
748 14.9
749 11.7
750 14.1 C750X
751 13.9 L751V
752 8.8 R752P R752Q R752W
753 9.7 A753S
754 13.1
755 11
756 7.2 M756V
757 11.5
759 12.2 K759N
760 14.3
761 11.5
763 14
767 12.6 D767X
768 10.5
769 9.2
770 9.8
771 10.5 H771fsX H771R
772 14.2
773 13.9
774 10.7 D774X D774Y
775 11
776 12.2 L776I L776P
777 9.9
778 11.2 A778T
780 12.4
821 14.8 D821E
822 13.7 V822L V822M
830 14.6
832 10.6
833 13.6
834 11.1 H834R
841 14.5 V841L