Structure and activation of the TSH receptor transmembrane domain

Autoimmunity Highlights

Table 5 FSH receptor-inactivating/silencing mutations reported in the literature

Mutation	BW number	Type^a	Activity	References
I418S	2.60	Inactivating	FSH-induced cAMP abolished	[77]
A419T	2.61	Inactivating	FSH-induced cAMP abolished	[78]
P519T	ECL2	Inactivating	FSH-induced cAMP abolished	[65]
R573C	6.36	Inactivating	FSH-induced max. cAMP 30% WT	[79]
A575V	6.38	Inactivating	FSH-induced cAMP abolished	[80]
P587H	6.50	Inactivating	FSH-induced cAMP abolished	[65]
L601V	ECL3	Inactivating	FSH-induced max. cAMP 20% WT	[81]

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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