G749S Summary

KCNH2 G749S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. G749S is not present in gnomAD. G749S 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.


G749S 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.

G749S 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 0.836 -5.534 0.887 0

G749S has 60 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 11.7
723 11.1 C723G C723R
724 14.1 C723X L724X
725 13.5 Q725fsX Q725R
726 9.5
727 11.9
728 14.6
729 12.3
730 10.3
733 13.7
737 11.2 L737P
738 14.8 Q738X
742 14.3
743 11.4
744 14.8 R744fsX R744G R744P R744Q R744X
745 11.2 G745A G745X
746 8 A746S A746X
747 5.1
748 5.5
750 3.5 C750X
751 5.3 L751V
752 5.4 R752P R752Q R752W
753 5.8 A753S
754 8
755 9.5
756 10.5 M756V
757 11.9
758 13.4
768 12.5
769 13.6
770 10.1
771 7.2 H771fsX H771R
772 6.6
773 5.6
774 5.5 D774X D774Y
775 8.4
776 11.9 L776I L776P
777 13.5
815 13.7
816 12.4 G816V
817 9.6
818 9.6 S818A S818L S818W
819 13.2 N819K
820 11.3 G820R
821 11.1 D821E
822 14.1 V822L V822M
838 13.6 L838R
840 14 E840Q
841 9.3 V841L
842 11.5
843 13.7
844 10.2 M844V
845 6.9
846 12.6 P846S P846T
847 12.6
848 9.7
849 13.7
851 14.5
852 13.9
862 14.9 L862P