C740F Summary

KCNH2 C740F was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C740F is not present in gnomAD. C740F has been functionally characterized in 0 papers. This residue is located in a Non_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.


C740F 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.

C740F 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 0.826 -10.699 0.207 -3

C740F has 50 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
46 13.6 D46E D46Y
55 14.3 S55L
56 13.2 R56Q
730 13.3
732 14.8
733 10.8
734 11.5 R734C R734H
735 7.3 S735L
736 5.3
737 6.5 L737P
738 7.3 Q738X
739 5.3 H739fsX
741 5.2 K741R
742 5.8
743 5.6
744 6.2 R744fsX R744G R744P R744Q R744X
745 10.3 G745A G745X
746 11.7 A746S A746X
747 14.9
750 14.2 C750X
751 11.6 L751V
754 12.6
755 13.8
758 12.5
779 13.1
780 14.7
781 8.4
782 10.6 I782fsX I782N
783 10.4 S783P
784 14.1 R784G R784Q R784W
799 14.9 L799sp
800 13
801 11.4 K801T
802 6.8
803 9.7 D803X D803Y
804 9.4
805 14.2 F805C F805S
830 14.1
831 11.3
833 14.6
848 13.1
851 12.2
852 10.6
853 13.8 W853X
854 13.5
855 9.6 S855R
856 9.2
857 10.5 E857X
858 12.5 I858T I858V
859 13.2 T859M T859R