Results for the protein: P01229

Results for the Protein: P01229

1170834

3972

LHB

NCBI, UniProt

LSHB_HUMAN RecName: Full=Lutropin subunit beta; Short=Lutropin beta chain; AltName: Full=Luteinizing hormone subunit beta; Short=LH-B; Short=LSH-B; Short=LSH-beta; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOGONADISM LHB-RELATED (HGON-LHB)
  HYPOGONADISM, MALE
  INFERTILITY, MALE AND FEMALE

4

6

3

3

4

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Default View: GHB - smart00068 Cys_knot - pfam00007 GHB_like - cd00069	Swiss-Prot Protein: P01229 Identical to: NP_000885 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Cys_knot	pfam00007	2.1e-60	26	130
GHB	smart00068	2.7e-66	25	131

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs73942398	Polymorphism	p.ALA67GLY	N/A
Swiss-Prot	VAR_015672	Polymorphism	p.ALA18THR	N/A
Swiss-Prot	VAR_003189	Disease	p.GLN74ARG	Hypogonadism LHB-related (HGON-LHB)
Swiss-Prot	VAR_015673	Polymorphism	p.GLY122SER	N/A
dbSNP	rs34349826	Polymorphism	p.ILE35THR	N/A
Swiss-Prot	VAR_034098	Polymorphism	p.MET15ILE	N/A
dbSNP	rs1800447	Polymorphism	p.TRP28ARG	N/A
OMIM	152780.0001	Disease	p.GLN54ARG	HYPOGONADISM, MALE
OMIM	152780.0004	Disease	p.GLY36ASP	HYPOGONADISM, MALE
OMIM	152780.0003	Disease	p.GLY102SER	INFERTILITY, MALE AND FEMALE

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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