C66S Summary

KCNH2 C66S was found in 0 papers (see below) with a total of 0 carriers: 0 had LQT2. C66S is not present in gnomAD. C66S 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 2 individuals unaffected with LQT2 and 8 individuals affected with LQT2.


C66S 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.

C66S 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 0.895 -6.722 1 -1

C66S has 68 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 14.3 K28E
29 13.8 F29L F29S F29V
30 9.5 I30Del I30T
31 12.7 I31S
32 11.5 A32T
33 14.8 N33T
38 11.6
39 10.4 C39R C39X
40 10.5
41 9.2 V41A
42 13.6 I42N
43 14.7 Y43C Y43D
44 12.7 C44F C44W C44X
45 14.9 N45D N45K
48 10.3
49 13.4 C49G C49R
51 12.7
52 10.6 C52W
53 13.2 G53R G53S
54 10.4 Y54N Y54X
55 13.5 S55L
56 15 R56Q
57 13.9 A57P
58 11.7 E58D E58K
59 8.5
60 11.8 M60T
61 12.7 Q61R
62 7.7 R62Q
63 5.7 P63H
64 5.7 C64R C64Y
65 4 T65P
67 5
68 5 F68L F68V
69 5.1 L69Del L69P
70 6.5 H70Q H70R
71 11.1 G71E G71R G71W
72 14.6 P72Q P72R P72S P72T
73 14.6 R73C R73fsX R73G R73H
74 11.8 T74fsX T74M
75 14.4 Q75X
76 13.9
78 12.6 A78P A78T
79 9.9 A79Del A79fsX A79S A79T
80 12.4 A80P
81 14 Q81E Q81H Q81P Q81X
82 9.2 I82Del I82dup I82Ins I82T
83 10.9 A83fsX A83P
85 13.6 A85P A85V
86 11.9 L86R
94 13.2 V94A V94L
96 10.7 I96T I96V
97 11.8
98 8.2
99 11.8 Y99N Y99S
100 13.3 R100G R100P R100Q
101 13.4 K101E
105 15
106 12.9 F106L F106V
108 12.5 C108Y
109 14.5 L109P L109Q L109X
110 11 V110A
111 14.6 D111V
112 13 V112M
125 12.5
126 14
127 9.7
128 13.9 N128S
129 10.9 F129C