A824T Summary

KCNH2 A824T was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A824T is not present in gnomAD. A824T has been functionally characterized in 0 papers. This residue is located in a Hotspot region for LQT2.

In silico predictions, functional data (if available), and location in structure are equivalent to observing 5 individuals unaffected with LQT2 and 5 individuals affected with LQT2.


A824T 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.

A824T 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 0.918 -3.62 0.988 0

A824T has 69 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 14.3 G6R
7 10.7
8 12
9 10.5 A9T A9V
10 8.2
11 11.2 Q11H Q11L
12 9.6 N12D
13 9.7 T13N
14 13.3
15 11.8 L15V
16 10.6 D16A
17 14.4
19 14.5 I19F
42 14.5 I42N
43 15 Y43C Y43D
479 13.8
480 14.1 E480V
481 13.5
696 12.5 R696C R696H
699 12.9 E699D
700 13.3
703 12.9
721 14.7 P721L
723 12.6 C723G C723R
724 14.2 C723X L724X
761 11.7
762 11
763 6.2
764 6.3
765 5.5
766 5
767 5.6 D767X
768 7.9
769 8.1
770 11
771 12.7 H771fsX H771R
780 12.7
782 11.2 I782fsX I782N
783 13.1 S783P
784 13.1 R784G R784Q R784W
785 8.8 G785D G785fsX G785S
786 6.4
787 5.4
788 6.4 E788D E788K
789 9.7
790 10.2
793 14.4 D793N
794 14.7 V794D V794I
795 12.3 V795I
796 13.6 V796Del V796L
797 10.9 A797T
798 10.5 I798fsX
799 9.8 L799sp
800 10.8
801 13.6 K801T
803 13.6 D803X D803Y
805 12.1 F805C F805S
820 13.4 G820R
821 10.9 D821E
822 7.2 V822L V822M
823 5.8 R823fsX R823Q R823T R823W
825 4.1
826 5.9 T826A T826I
827 8.8
828 6.1
829 10.8 D829A D829E
830 10.2
831 14.7
860 15