Results for the protein: O95972

Results for the Protein: O95972

51338749

9210

BMP15

NCBI, UniProt

BMP15_HUMAN RecName: Full=Bone morphogenetic protein 15; Short=BMP-15; AltName: Full=Growth/differentiation factor 9B; Short=GDF-9B; Flags: Precursor

Known Diseases associated with this Protein:
  OVARIAN DYSGENESIS 2
  OVARIAN DYSGENESIS 2 (ODG2)
  PREMATURE OVARIAN FAILURE 4
  PREMATURE OVARIAN FAILURE 4 (POF4)

18

5

5

0

18

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Default View: TGF_beta - pfam00019 TGFB - smart00204	Swiss-Prot Protein: O95972 Identical to: NP_005439 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TGFB	smart00204	1.4e-43	291	392

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058983	Polymorphism	p.ALA180PHE	N/A
Swiss-Prot	VAR_058984	Polymorphism	p.ALA180THR	N/A
Swiss-Prot	VAR_066933	Disease	p.ARG329CYS	Premature ovarian failure 4 (POF4)
Swiss-Prot	VAR_058978	Disease	p.ARG76CYS	Premature ovarian failure 4 (POF4)
Swiss-Prot	VAR_058975	Disease	p.ARG61GLN	Premature ovarian failure 4 (POF4)
Swiss-Prot	VAR_058981	Disease	p.ARG138HIS	Premature ovarian failure 4 (POF4)
Swiss-Prot	VAR_058986	Disease	p.ARG206HIS	Premature ovarian failure 4 (POF4)
Swiss-Prot	VAR_058979	Disease	p.ARG76HIS	Premature ovarian failure 4 (POF4)
Swiss-Prot	VAR_058976	Disease	p.ARG61TRP	Premature ovarian failure 4 (POF4)
Swiss-Prot	VAR_058977	Disease	p.ARG68TRP	Premature ovarian failure 4 (POF4)
Swiss-Prot	VAR_058985	Disease	p.ASN196LYS	Premature ovarian failure 4 (POF4)
Swiss-Prot	VAR_058980	Polymorphism	p.ASN103SER	N/A
Swiss-Prot	VAR_066932	Polymorphism	p.HIS200TYR	N/A
Swiss-Prot	VAR_058988	Disease	p.ILE243VAL	Premature ovarian failure 4 (POF4)
Swiss-Prot	VAR_058982	Disease	p.LEU148PRO	Premature ovarian failure 4 (POF4)
Swiss-Prot	VAR_058974	Polymorphism	p.SER5ARG	N/A
Swiss-Prot	VAR_058987	Disease	p.TRP221ARG	Premature ovarian failure 4 (POF4)
Swiss-Prot	VAR_021195	Disease	p.TYR235CYS	Ovarian dysgenesis 2 (ODG2)
OMIM	300247.0003 300247.0006	Disease	p.ALA180THR	PREMATURE OVARIAN FAILURE 4
OMIM	300247.0002	Disease	p.ARG76CYS	PREMATURE OVARIAN FAILURE 4
OMIM	300247.0005	Disease	p.ARG68TRP	PREMATURE OVARIAN FAILURE 4
OMIM	300247.0004	Disease	p.GLU211TER	PREMATURE OVARIAN FAILURE 4
OMIM	300247.0001	Disease	p.TYR235CYS	OVARIAN DYSGENESIS 2

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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