C750Y Summary

KCNH2 C750Y was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C750Y is not present in gnomAD. C750Y 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 7 individuals unaffected with LQT2 and 3 individuals affected with LQT2.


C750Y 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.

C750Y 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 0.874 -10.67 1 -3

C750Y 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
722 14.1
723 14.1 C723G C723R
726 11.4
727 14
729 13.1
730 11.1
733 13.2
736 13.5
737 9.9 L737P
738 14.1 Q738X
740 14.2 C740G C740W
742 11.3
743 8.8
744 12.9 R744fsX R744G R744P R744Q R744X
745 8.8 G745A G745X
746 6.1 A746S A746X
747 4.5
748 7.3
749 3.5
751 4.7 L751V
752 7.8 R752P R752Q R752W
753 5.7 A753S
754 6.3
755 9.4
756 11.2 M756V
757 11.1
758 12.1
770 13.5
771 10.7 H771fsX H771R
772 9.3
773 7.5
774 8.2 D774X D774Y
775 9.7
776 14 L776I L776P
815 14
816 13.4 G816V
817 10.3
818 11.7 S818A S818L S818W
820 14.1 G820R
821 14.3 D821E
833 14.6
837 13.8 D837G D837N D837Y
838 11 L838R
839 13.3
840 12.6 E840Q
841 7.3 V841L
842 8.7
843 11.7
844 9.2 M844V
845 5.1
846 10.3 P846S P846T
847 10.5
848 6.4
849 10.5
850 13.5 D850N
851 11.4
852 10.5
853 13.9 W853X
855 14.9 S855R