Structure and activation of the TSH receptor transmembrane domain

Autoimmunity Highlights

Table 3 LH receptor-activating mutations reported in the literature

Mutation	BW number	Type	Activity	References
A373V	1.46	CAM	cAMP 7.5-fold WT	[67]
M398T	2.43	CAM	cAMP 25-fold WT	[68]
L457R	3.43	CAM	cAMP 10-fold WT	[46]
I542L	5.55	CAM	cAMP 7-fold WT	[48]
D564G	6.30	CAM	cAMP 5-fold WT	[48]
A568V	6.34	CAM	cAMP 4-fold WT	[69]
M571I	6.37	Activating	–	[70]
A572V	6.38	Activating	–	[70]
I575L	6.41	CAM	cAMP 20-fold WT	[71]
T577I	6.43	Activating	–	[70]
D578G	6.44	CAM	cAMP 6.6-fold WT	[49]
D578Y	6.44	CAM	cAMP 13-fold WT	[48]
D578E	6.44	CAM	cAMP 4.3-fold WT	[49]
D578H	6.44	CAM	cAMP 14.4-fold WT	[72]
D578Q	6.44	CAM	cAMP 10.2-fold WT	[72]
C581R	6.47	CAM	cAMP 5-fold WT	[48]
N615R	7.45	CAM	cAMP 2.6-fold WT	[72]

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