Mutation C646T in FSHR Human

MutationC646T
RegionOther
General number GPCRDB / Ballesteros-Extended0
0
ReceptorFSHR HumanSwiss-Prot
Crossreferences at GPCRDB
PhenotypeConstitutivity (compared to WT): Unknown
Cell-surface expression (%WT): Unknown
Binding affinity of native hormone: Unchanged
Additional commentsC646 is palmitoylated. Lack of palmitoylation on this position significantly impairs cell surface membrane expression of the partially palmitoylated receptor.
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Reference #1 Functional and structural roles of conserved cysteine residues in the carboxyl-terminal domain of the follicle-stimulating hormone receptor in human embryonic kidney 293 cells.
Uribe A, Zarinan T, Perez-Solis MA, Gutierrez-Sagal R, Jardon-Valadez E, Pineiro A, Dias JA, Ulloa-Aguirre A
Biol Reprod. 2008 May;78(5):869-82. Epub 2008 Jan 16.
Pubmed


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