A755S Summary

KCNH2 A755S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A755S is not present in gnomAD. A755S 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 9 individuals unaffected with LQT2 and 1 individuals affected with LQT2.


A755S 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.

A755S 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 0.671 -2.293 0.587 1

A755S has 65 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
687 13.8
693 14.7 L693X
713 14.7 M713V
714 13.1
717 11.6 L717P
718 15
720 14.6
721 13.7 P721L
722 11
723 12 C723G C723R
724 12.2 C723X L724X
725 9.1 Q725fsX Q725R
726 6.3
727 9.6
728 8.9
729 4.7
730 6.6
731 10.6 H731R
732 8.3
733 6
734 11.9 R734C R734H
735 11.6 S735L
736 9.7
737 8.4 L737P
738 12.8 Q738X
740 13.8 C740G C740W
742 14.2
743 10.3
746 13.2 A746S A746X
747 12.9
748 12
749 9.5
750 9.4 C750X
751 7 L751V
752 7.3 R752P R752Q R752W
753 5.3 A753S
754 4.6
756 4.5 M756V
757 6.2
758 5
759 8.7 K759N
760 10.7
761 14.2
771 13.8 H771fsX H771R
773 14.9
774 13.4 D774X D774Y
775 14.4
779 13.5
780 15
781 11.9
830 14.5
831 10.1
832 11.4
833 9.7
834 12.5 H834R
837 10.5 D837G D837N D837Y
838 10.7 L838R
839 14.7
840 13.2 E840Q
841 10.3 V841L
842 13.4
844 14.7 M844V
845 12.9
848 13.6
852 14.2