C729S Summary

KCNH2 C729S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C729S is not present in gnomAD. C729S 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.


C729S 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.

C729S 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 0.848 -9.728 0.739 -1

C729S has 59 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
683 11.1
684 13.6
686 13.3
687 9.7
688 14.1
689 11.4
690 12.9
692 14.6
693 10.8 L693X
696 13.2 R696C R696H
697 12.6 L697X
713 11.2 M713V
714 10.8
715 13.5 A715A A715sp A715T A715V
716 11.8 V716G
717 8.3 L717P
718 12.8
719 13.6
720 11.1
721 11.5 P721L
722 10.8
723 10.7 C723G C723R
724 9.2 C723X L724X
725 6.8 Q725fsX Q725R
726 4.8
727 6.7
728 4.4
730 5.4
731 7.1 H731R
732 5.1
733 5.8
734 10.1 R734C R734H
735 11.6 S735L
736 11.2
737 10.2 L737P
738 13.1 Q738X
743 13.6
748 13.4
749 12.3
750 13.1 C750X
751 9.8 L751V
752 8.1 R752P R752Q R752W
753 9.2 A753S
754 9.2
755 4.7
756 5.7 M756V
757 9.7
758 7.9
759 9.6 K759N
760 9.7
761 14
771 14.4 H771fsX H771R
781 14.3
830 14.8
831 10.9
832 13.2
833 13
837 14 D837G D837N D837Y
841 14.7 V841L