A9S Summary

KCNH2 A9S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A9S is not present in gnomAD. A9S 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.


A9S 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.

A9S 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 0.556 -1.636 0.053 0

A9S has 43 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
5 12.6
6 9.2 G6R
7 6.2
8 3.8
10 3.4
11 7.1 Q11H Q11L
12 8.7 N12D
13 6.1 T13N
14 10.2
15 12 L15V
16 11.2 D16A
17 11.9
403 14.6
474 14.3 T474I
475 14.2 Y475C Y475Del
476 13.1 V476I
477 12.9
478 13.5 A478D
479 12.2
480 9.1 E480V
481 8
482 7.3 V482A
483 10.4 V483I
484 11.2
485 13.9 H485X
488 13.4 R488C R488H
695 13
696 14 R696C R696H
699 12.5 E699D
763 14.1
764 11.6
765 7.8
766 8.8
767 12.1 D767X
786 13
787 14.9
788 12.7 E788D E788K
823 12 R823fsX R823Q R823T R823W
824 10.5
825 8.4
826 10.2 T826A T826I
827 11.5
828 14.1