Results for the protein: O60566

Results for the Protein: O60566

143811368

701

BUB1B

NCBI, UniProt

BUB1B_HUMAN RecName: Full=Mitotic checkpoint serine/threonine-protein kinase BUB1 beta; AltName: Full=MAD3/BUB1-related protein kinase; Short=hBUBR1; AltName: Full=Mitotic checkpoint kinase MAD3L; AltName: Full=Protein SSK1

Known Diseases associated with this Protein:
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (MVA1)
PREMATURE CHROMATID SEPARATION TRAIT (PCS)

7

6

0

0

13

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Default View: Mad3_BUB1_I - smart00777 Mad3_BUB1_I - pfam08311	Swiss-Prot Protein: O60566 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Mad3_BUB1_I	smart00777	2.1e-67	55	178

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_008853	Polymorphism	p.ARG349GLN	N/A
Swiss-Prot	VAR_028921	Disease	p.ARG36GLN	Premature chromatid separation trait (PCS)
Swiss-Prot	VAR_028923	Disease	p.ARG550GLN	Mosaic variegated aneuploidy syndrome 1 (MVA1)
Swiss-Prot	VAR_028924	Disease	p.ARG814HIS	Mosaic variegated aneuploidy syndrome 1 (MVA1)
Swiss-Prot	VAR_028927	Disease	p.GLN921HIS	Mosaic variegated aneuploidy syndrome 1 (MVA1)
Swiss-Prot	VAR_028922	Polymorphism	p.GLU390ASP	N/A
Swiss-Prot	VAR_028926	Disease	p.ILE909THR	Mosaic variegated aneuploidy syndrome 1 (MVA1)
Swiss-Prot	VAR_028925	Disease	p.LEU844PHE	Mosaic variegated aneuploidy syndrome 1 (MVA1)
Swiss-Prot	VAR_028928	Disease	p.LEU1012PRO	Mosaic variegated aneuploidy syndrome 1 (MVA1)
Swiss-Prot	VAR_008852	Polymorphism	p.MET15THR	N/A
Swiss-Prot	VAR_054549	Polymorphism	p.PRO378SER	N/A
Swiss-Prot	VAR_040402	Polymorphism	p.THR40MET	N/A
Swiss-Prot	VAR_008854	Polymorphism	p.VAL618ALA	N/A

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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