Results for the protein: O95817

Results for the Protein: O95817

12643665

9531

BAG3

NCBI, UniProt

BAG3_HUMAN RecName: Full=BAG family molecular chaperone regulator 3; Short=BAG-3; AltName: Full=Bcl-2-associated athanogene 3; AltName: Full=Bcl-2-binding protein Bis; AltName: Full=Docking protein CAIR-1

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1HH (CMD1HH)
  CARDIOMYOPATHY, DILATED, 1HH
  MYOPATHY, MYOFIBRILLAR, 6 (MFM6)
  MYOPATHY, MYOFIBRILLAR, BAG3-RELATED
  VARIANT OF UNKNOWN SIGNIFICANCE

14

12

7

2

17

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Default View: WW - smart00456 BAG - smart00264	Swiss-Prot Protein: O95817 Identical to: NP_004272 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BAG	smart00264	4.1e-26	421	498

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066780	Polymorphism	p.ALA155THR	N/A
Swiss-Prot	VAR_048346	Polymorphism	p.ALA405VAL	N/A
Swiss-Prot	VAR_048344	Polymorphism	p.ARG71GLN	N/A
Swiss-Prot	VAR_065480	Disease	p.ARG477HIS	Cardiomyopathy, dilated 1HH (CMD1HH)
Swiss-Prot	VAR_066781	Disease	p.ARG218TRP	Cardiomyopathy, dilated 1HH (CMD1HH)
Swiss-Prot	VAR_066782	Polymorphism	p.ARG258TRP	N/A
Swiss-Prot	VAR_065479	Disease	p.ARG71TRP	Cardiomyopathy, dilated 1HH (CMD1HH)
Swiss-Prot	VAR_066783	Polymorphism	p.ASP300ASN	N/A
dbSNP	rs2234962	Polymorphism	p.CYS151ARG	N/A
Swiss-Prot	VAR_066788	Polymorphism	p.GLU553ASP	N/A
Swiss-Prot	VAR_066785	Disease	p.GLU455LYS	Cardiomyopathy, dilated 1HH (CMD1HH)
Swiss-Prot	VAR_066778	Polymorphism	p.ILE94PHE	N/A
Swiss-Prot	VAR_066786	Disease	p.LEU462PRO	Cardiomyopathy, dilated 1HH (CMD1HH)
Swiss-Prot	VAR_063089	Disease	p.PRO209LEU	Myopathy, myofibrillar, 6 (MFM6)
dbSNP	rs3858340	Polymorphism	p.PRO407LEU	N/A
Swiss-Prot	VAR_066777	Polymorphism	p.PRO77LEU	N/A
Swiss-Prot	VAR_066779	Polymorphism	p.PRO115SER	N/A
Swiss-Prot	VAR_066784	Polymorphism	p.PRO380SER	N/A
Swiss-Prot	VAR_066787	Disease	p.VAL468MET	Cardiomyopathy, dilated 1HH (CMD1HH)
OMIM	603883.0006	Disease	p.ARG477HIS	CARDIOMYOPATHY, DILATED, 1HH
OMIM	603883.0004	Disease	p.ARG123TER	CARDIOMYOPATHY, DILATED, 1HH
OMIM	603883.0007	Disease	p.ARG218TRP	CARDIOMYOPATHY, DILATED, 1HH
OMIM	603883.0009	Disease	p.ARG258TRP	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	603883.0003	Disease	p.ARG71TRP	CARDIOMYOPATHY, DILATED, 1HH
OMIM	603883.0008	Disease	p.LEU462PRO	CARDIOMYOPATHY, DILATED, 1HH
OMIM	603883.0001	Disease	p.PRO209LEU	MYOPATHY, MYOFIBRILLAR, BAG3-RELATED

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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