A97S Summary

KCNH2 A97S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. A97S is not present in gnomAD. A97S 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.


A97S 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.

A97S 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 0.418 -0.166 0.022 2

A97S 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
28 14.6 K28E
48 14.3
51 11.5
52 12.4 C52W
65 13.4 T65P
66 11.8 C66G C66R C66Y
67 12.9
68 12.5 F68L F68V
69 8.5 L69Del L69P
70 7.7 H70Q H70R
71 7.5 G71E G71R G71W
72 8.7 P72Q P72R P72S P72T
73 5.8 R73C R73fsX R73G R73H
74 5.7 T74fsX T74M
75 7.6 Q75X
76 11.6
77 12.1 R77S
78 9.3 A78P A78T
79 10.3 A79Del A79fsX A79S A79T
80 13.6 A80P
81 12.9 Q81E Q81H Q81P Q81X
82 12.2 I82Del I82dup I82Ins I82T
93 14.8 K93R K93X
94 10.5 V94A V94L
95 7.6 E95G E95K
96 4 I96T I96V
98 4.2
99 6.2 Y99N Y99S
100 9.7 R100G R100P R100Q
101 15 K101E
102 14.2 D102H D102V D102X
103 11.4
104 10.2
105 6.1
106 5.8 F106L F106V
107 5.5 L107P
108 6.6 C108Y
109 10.2 L109P L109Q L109X
110 10.2 V110A
127 14.9
129 11.4 F129C
130 12.8 E130K
131 10.7 V131fsX V131L