C723R Summary

KCNH2 C723R was found in 1 paper (see below) with a total of 1 carrier: 0 had LQT2. C723R is not present in gnomAD. C723R 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.


C723R Reported Clinical Data

PMID Year Carriers Unaffected LQT2 Other disease
14661677 2003 1 1
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

C723R 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
-8 0.875 -11.361 0.994 -3

C723R has 63 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
692 14.2
693 11.3 L693X
696 9 R696C R696H
697 11.4 L697X
699 13.4 E699D
700 10
703 14.8
704 14.9 A704T A704V
716 14.5 V716G
717 11.3 L717P
718 13.6
719 11.1
720 9
721 5.2 P721L
722 5.2
724 4.6 C723X L724X
725 6.6 Q725fsX Q725R
726 6.2
727 7.5
728 9.6
729 10.7
730 11.2
731 14.4 H731R
748 12.3
749 11.1
750 14.1 C750X
751 13 L751V
752 7 R752P R752Q R752W
753 11.3 A753S
754 14.4
755 12
756 9.7 M756V
757 14.7
759 14.7 K759N
761 11.3
762 13.8
763 11.2
764 11.5
765 13.8
766 10.9
767 8.1 D767X
768 5.7
769 6.5
770 7.7
771 7.4 H771fsX H771R
772 12.1
773 13.2
774 10.4 D774X D774Y
775 12.9
776 13.3 L776I L776P
777 12.8
778 13 A778T
780 12.6
805 15 F805C F805S
818 14.3 S818A S818L S818W
820 13.5 G820R
821 11.3 D821E
822 10.4 V822L V822M
823 11.3 R823fsX R823Q R823T R823W
824 12.6
830 13.8
832 12.4
834 14.7 H834R