Structure and activation of the TSH receptor transmembrane domain

Autoimmunity Highlights

Table 4 TSH receptor-activating mutations reported in the literature

Mutation	BW number	Type	Activity	References
V421I	1.39	CAM	cAMP 2.1-fold WT	[73]
Y466A	2.56	CAM	cAMP 2.8-fold WT	[73]
I486N	ECL1	CAM	cAMP 4-fold WT	[74]
T501A	3.32	CAM	cAMP 3.4-fold WT	[73]
L512R	3.43	CAM	cAMP 3.2-fold WT	[40]
A593G	5.50	CAM	cAMP 2.13-fold WT	[15]
L629F	6.40	CAM	cAMP 2.2-fold WT	[45]
F631I	6.42	CAM	cAMP 3.7-fold WT	[75]
T632A	6.43	CAM	cAMP 9.7-fold WT	[16]
D633A	6.44	CAM	cAMP 13.6-fold WT	[16]
D633E	6.44	CAM	cAMP 3.3-fold WT	[40]
C636R	6.47	CAM	cAMP 7.7-fold WT	[76]
C636S	6.47	CAM	cAMP 5.5-fold WT	[76]
M637C	6.48	CAM	cAMP 2.4-fold WT	[73]
M637W	6.48	CAM	cAMP 4.8-fold WT	[73]
P639G	6.50	CAM	cAMP 4.9-fold WT	[76]
P639A	6.50	CAM	cAMP 4.8-fold WT	[76]
P639S	6.50	CAM	cAMP 4.8-fold WT	[76]
S641A	6.52	CAM	cAMP 3.1-fold WT	[73]
Y643F	6.54	CAM	cAMP 2.1-fold WT	[73]
L645V	6.56	CAM	cAMP 2.1-fold WT	[73]
L665F	7.40	CAM	cAMP 3-fold WT	[14]
N674D	7.49	CAM	cAMP 11.3-fold WT	[16]

Mutations causing increase of constitutive activity less than twofold of WT are not included
CAM constitutively active mutant, BW Ballesteros–Weinstein numbering, WT wild type

ISSN: 2038-3274