A763S Summary

KCNH2 A763S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A763S is not present in gnomAD. A763S 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.


A763S 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.

A763S 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 0.709 -2.685 0.616 1

A763S has 67 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
6 14.2 G6R
7 12.2
8 14.6
9 14.1 A9T A9V
10 13
13 14.6 T13N
16 14.5 D16A
478 13.9 A478D
479 12.8
480 14.3 E480V
481 13.6
696 12.2 R696C R696H
697 14.7 L697X
699 11.2 E699D
700 9
701 14.7
702 14.4
703 8.3
704 10.7 A704T A704V
706 13.2 S706C S706F
707 10.4
708 14
719 14.6
720 13.8
721 11 P721L
722 14
723 11.2 C723G C723R
724 12.2 C723X L724X
759 13.4 K759N
760 10.2
761 6.5
762 5.1
764 3.4
765 6.5
766 7.7
767 5.6 D767X
768 9.2
769 7.7
770 12.1
771 14.4 H771fsX H771R
780 11.3
781 13.9
782 10.5 I782fsX I782N
783 11 S783P
784 10.8 R784G R784Q R784W
785 9.5 G785D G785fsX G785S
786 9.6
787 8.7
788 12.1 E788D E788K
789 14.2
799 12.8 L799sp
800 12.5
801 13.8 K801T
803 14.5 D803X D803Y
805 12.8 F805C F805S
821 14.6 D821E
822 10.3 V822L V822M
823 10.7 R823fsX R823Q R823T R823W
824 6.2
825 9
826 7.3 T826A T826I
827 6.7
828 4.5
829 7 D829A D829E
830 6.6
831 10.9
832 11.8