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Results for the Protein: P23945
311033420

FSHR_HUMAN RecName: Full=Follicle-stimulating hormone receptor; Short=FSH-R; AltName: Full=Follitropin receptor; Flags: Precursor

Known Diseases associated with this Protein:
  OVARIAN DYSGENESIS 1 (ODG1)
  OVARIAN HYPERSTIMULATION SYNDROME (OHSS)
13
5
0
0
18
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Default View:

LRRNT - smart00013
LRRNT - pfam01462
GnHR_trans - pfam12369
7tm_1 - pfam00001


Swiss-Prot Protein: P23945
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LRRNTpfam014626e-081745
7tm_1pfam000012.4e-51384626
LRRNTsmart000132.3e-081750
GnHR_transpfam123692.1e-40282349

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013903Polymorphismp.ALA307THRN/A
Swiss-ProtVAR_018047Diseasep.ALA419THROvarian dysgenesis 1 (ODG1)
Swiss-ProtVAR_018046Diseasep.ALA189VALOvarian dysgenesis 1 (ODG1)
Swiss-ProtVAR_018048Diseasep.ARG573CYSOvarian dysgenesis 1 (ODG1)
Swiss-ProtVAR_013905Polymorphismp.ASN680SERN/A
Swiss-ProtVAR_017245Diseasep.ASP567ASNOvarian hyperstimulation syndrome (OHSS)
Swiss-ProtVAR_039285Polymorphismp.ASP567GLYN/A
Swiss-ProtVAR_039280Diseasep.ASP224VALOvarian dysgenesis 1 (ODG1)
Swiss-ProtVAR_018045Diseasep.ILE160THROvarian dysgenesis 1 (ODG1)
Swiss-ProtVAR_039284Diseasep.ILE545THROvarian hyperstimulation syndrome (OHSS)
Swiss-ProtVAR_039286Diseasep.LEU601VALOvarian dysgenesis 1 (ODG1)
Swiss-ProtVAR_018049Polymorphismp.PHE591SERN/A
Swiss-ProtVAR_039281Diseasep.PRO348ARGOvarian dysgenesis 1 (ODG1)
Swiss-ProtVAR_039283Diseasep.PRO519THROvarian dysgenesis 1 (ODG1)
Swiss-ProtVAR_013904Polymorphismp.SER524ARGN/A
Swiss-ProtVAR_039279Diseasep.SER128TYROvarian hyperstimulation syndrome (OHSS)
Swiss-ProtVAR_039282Diseasep.THR449ALAOvarian hyperstimulation syndrome (OHSS)
Swiss-ProtVAR_017244Diseasep.THR449ILEOvarian hyperstimulation syndrome (OHSS)



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