A753T Summary

KCNH2 A753T was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A753T is not present in gnomAD. A753T 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.


A753T 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.

A753T 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 0.838 -3.757 0.739 0

A753T has 64 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
717 14.5 L717P
721 14 P721L
722 9.7
723 11.3 C723G C723R
724 13.5 C723X L724X
725 10.7 Q725fsX Q725R
726 7.9
727 11.8
728 12.6
729 9.2
730 9.8
731 15 H731R
732 13.5
733 11
736 13.3
737 10.8 L737P
742 14.3
743 11
745 13.8 G745A G745X
746 11.3 A746S A746X
747 9.9
748 10.4
749 5.8
750 5.7 C750X
751 6.4 L751V
752 6.4 R752P R752Q R752W
754 3.9
755 5.3
756 5.8 M756V
757 6.1
758 8.7
759 12.6 K759N
768 15
770 13.1
771 11.2 H771fsX H771R
772 12
773 10.4
774 9 D774X D774Y
775 9.2
776 13.7 L776I L776P
777 13.2
781 14.9
815 14.1
816 14.4 G816V
817 12.9
818 13.9 S818A S818L S818W
831 14.7
832 14.7
833 11.6
834 13.5 H834R
836 14
837 9.8 D837G D837N D837Y
838 9.4 L838R
839 12.2
840 9.9 E840Q
841 6.3 V841L
842 9.8
843 12
844 9.6 M844V
845 8.1
846 13.9 P846S P846T
848 10.7
849 13.8
852 13