Results for the protein: Q16585

Results for the Protein: Q16585

13431857

6443

SGCB

NCBI, UniProt

SGCB_HUMAN RecName: Full=Beta-sarcoglycan; Short=Beta-SG; AltName: Full=43 kDa dystrophin-associated glycoprotein; Short=43DAG; AltName: Full=A3b

Known Diseases associated with this Protein:
LIMB-GIRDLE MUSCULAR DYSTROPHY 2E (LGMD2E)
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E

14

5

6

0

13

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View:	Swiss-Prot Protein: Q16585 Identical to: NP_000223 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_010422	Disease	p.ARG91CYS	Limb-girdle muscular dystrophy 2E (LGMD2E)
Swiss-Prot	VAR_010391	Disease	p.ARG91LEU	Limb-girdle muscular dystrophy 2E (LGMD2E)
Swiss-Prot	VAR_010392	Disease	p.ARG91PRO	Limb-girdle muscular dystrophy 2E (LGMD2E)
Swiss-Prot	VAR_010421	Polymorphism	p.GLN11GLU	N/A
Swiss-Prot	VAR_010425	Polymorphism	p.GLY139ASP	N/A
Swiss-Prot	VAR_010426	Disease	p.GLY167SER	Limb-girdle muscular dystrophy 2E (LGMD2E)
Swiss-Prot	VAR_010424	Disease	p.ILE119PHE	Limb-girdle muscular dystrophy 2E (LGMD2E)
Swiss-Prot	VAR_010394	Disease	p.LEU108ARG	Limb-girdle muscular dystrophy 2E (LGMD2E)
Swiss-Prot	VAR_010393	Disease	p.MET100LYS	Limb-girdle muscular dystrophy 2E (LGMD2E)
Swiss-Prot	VAR_010423	Polymorphism	p.SER114PHE	N/A
Swiss-Prot	VAR_010427	Polymorphism	p.THR182ALA	N/A
Swiss-Prot	VAR_010395	Disease	p.THR151ARG	Limb-girdle muscular dystrophy 2E (LGMD2E)
Swiss-Prot	VAR_010428	Polymorphism	p.TYR184CYS	N/A
OMIM	600900.0008	Disease	p.ARG91LEU	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
OMIM	600900.0005	Disease	p.ARG91PRO	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
OMIM	600900.0006	Disease	p.LEU108ARG	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
OMIM	600900.0007	Disease	p.MET100LYS	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
OMIM	600900.0001	Disease	p.THR151ARG	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E
OMIM	600900.0002	Disease	p.TYR184TER	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258