| Mutation | V221G >>View Structure<< |
Region | LRR8 |
General number GPCRDB / Ballesteros-Extended | 0
8047 |
| Receptor | FSHR Human | Swiss-Prot
Crossreferences at GPCRDB |
| Phenotype | Constitutivity (compared to WT): Unknown
Cell-surface expression (%WT): Unknown
Binding affinity of native hormone: Unknown
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| Additional comments | A novel mutation in exon8 of FSHR was identified in a woman with primary amenorrhea whose ovaries reacted to high-dose hMG treatment.
Natural occuring mutation. | |
| Download | Download the flat text file of this mutant (more info here) | |
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| Reference #1 |
A novel mutation in exon8 of the follicle-stimulating hormone receptor in a woman with primary amenorrhea.
Nakamura Y, Maekawa R, Yamagata Y, Tamura I, Sugino N
Gynecol Endocrinol. 2008 Dec;24(12):708-12. | Pubmed |