Structure and activation of the TSH receptor transmembrane domain

Autoimmunity Highlights

Table 6 LH receptor inactivating/silencing mutations reported in the literature

Mutation	BW number	Type^a	Activity	References
I374T	1.47	Inactivating	–	[82]
T392I	ICL1	Inactivating	–	[82]
C543R	5.55	Inactivating	LH-induced cAMP abolished	[83]
A593P	6.59	Inactivating	LH-induced cAMP abolished	[84]
S616Y	7.46	Inactivating	LH-induced EC₅₀ 20-fold WT	[85]
I625K	7.55	Inactivating	LH-induced EC₅₀ 20-fold WT	[85]

BW Ballesteros–Weinstein numbering, WT wild type
^aMutation causing decrease of the receptor constitutive activity is defined as silencing. Mutation causing decrease of hormone-induced cyclic AMP activity is defined as inactivating

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