Results for the protein: P23945

Results for the Protein: P23945

311033420

2492

FSHR

NCBI, UniProt

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 ↕
7tm_1	pfam00001	2.4e-51	384	626
LRRNT	smart00013	2.3e-08	17	50
GnHR_trans	pfam12369	2.1e-40	282	349

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_013903	Polymorphism	p.ALA307THR	N/A
Swiss-Prot	VAR_018047	Disease	p.ALA419THR	Ovarian dysgenesis 1 (ODG1)
Swiss-Prot	VAR_018046	Disease	p.ALA189VAL	Ovarian dysgenesis 1 (ODG1)
Swiss-Prot	VAR_018048	Disease	p.ARG573CYS	Ovarian dysgenesis 1 (ODG1)
Swiss-Prot	VAR_013905	Polymorphism	p.ASN680SER	N/A
Swiss-Prot	VAR_017245	Disease	p.ASP567ASN	Ovarian hyperstimulation syndrome (OHSS)
Swiss-Prot	VAR_039285	Polymorphism	p.ASP567GLY	N/A
Swiss-Prot	VAR_039280	Disease	p.ASP224VAL	Ovarian dysgenesis 1 (ODG1)
Swiss-Prot	VAR_018045	Disease	p.ILE160THR	Ovarian dysgenesis 1 (ODG1)
Swiss-Prot	VAR_039284	Disease	p.ILE545THR	Ovarian hyperstimulation syndrome (OHSS)
Swiss-Prot	VAR_039286	Disease	p.LEU601VAL	Ovarian dysgenesis 1 (ODG1)
Swiss-Prot	VAR_018049	Polymorphism	p.PHE591SER	N/A
Swiss-Prot	VAR_039281	Disease	p.PRO348ARG	Ovarian dysgenesis 1 (ODG1)
Swiss-Prot	VAR_039283	Disease	p.PRO519THR	Ovarian dysgenesis 1 (ODG1)
Swiss-Prot	VAR_013904	Polymorphism	p.SER524ARG	N/A
Swiss-Prot	VAR_039279	Disease	p.SER128TYR	Ovarian hyperstimulation syndrome (OHSS)
Swiss-Prot	VAR_039282	Disease	p.THR449ALA	Ovarian hyperstimulation syndrome (OHSS)
Swiss-Prot	VAR_017244	Disease	p.THR449ILE	Ovarian hyperstimulation syndrome (OHSS)

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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