Results for the protein: P30968

Results for the Protein: P30968

399777

2798

GNRHR

NCBI, UniProt

GNRHR_HUMAN RecName: Full=Gonadotropin-releasing hormone receptor; Short=GnRH receptor; Short=GnRH-R

Known Diseases associated with this Protein:
  FERTILE EUNUCH SYNDROME, INCLUDED
  HYPOGONADOTROPIC HYPOGONADISM 7 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (HH7)
  HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA

24

0

13

0

11

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Default View: 7tm_1 - pfam00001	Swiss-Prot Protein: P30968 Identical to: NP_000397 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019314	Disease	p.ALA129ASP	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)
Swiss-Prot	VAR_019317	Disease	p.ALA171THR	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)
Swiss-Prot	VAR_019319	Disease	p.ARG262GLN	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)
Swiss-Prot	VAR_019315	Disease	p.ARG139HIS	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)
Swiss-Prot	VAR_019311	Disease	p.ASN10LYS	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)
Swiss-Prot	VAR_019313	Disease	p.GLN106ARG	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)
Swiss-Prot	VAR_019312	Disease	p.GLU90LYS	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)
Swiss-Prot	VAR_069960	Disease	p.LEU83VAL	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)
Swiss-Prot	VAR_019316	Disease	p.SER168ARG	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)
Swiss-Prot	VAR_019318	Disease	p.SER217ARG	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)
Swiss-Prot	VAR_019320	Disease	p.TYR284CYS	Hypogonadotropic hypogonadism 7 with or without anosmia (HH7)
OMIM	138850.0004	Disease	p.ALA129ASP	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0012	Disease	p.ALA171THR	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0002	Disease	p.ARG262GLN	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0008	Disease	p.ARG139HIS	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0009 138850.0013	Disease	p.ASN10LYS	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0001	Disease	p.GLN106ARG	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA\|\|FERTILE EUNUCH SYNDROME, INCLUDED
OMIM	138850.0013	Disease	p.GLN11LYS	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0010	Disease	p.GLU90LYS	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0007	Disease	p.LEU314TER	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0014	Disease	p.PRO320LEU	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0006	Disease	p.SER168ARG	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA
OMIM	138850.0005	Disease	p.SER217ARG	HYPOGONADOTROPIC HYPOGONADISM 7 WITH ANOSMIA
OMIM	138850.0003	Disease	p.TYR284CYS	HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA

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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