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Known Diseases associated with this Protein: |  LIMB-GIRDLE MUSCULAR DYSTROPHY 2C (LGMD2C)
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|  | 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. |
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 Default View:
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Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_010397 | Polymorphism | p.ARG116HIS | N/A | | Swiss-Prot | VAR_010399 | Polymorphism | p.ASN287SER | N/A | | Swiss-Prot | VAR_010398 | Disease | p.CYS283TYR | Limb-girdle muscular dystrophy 2C (LGMD2C) | | Swiss-Prot | VAR_012202 | Disease | p.GLY69ARG | Limb-girdle muscular dystrophy 2C (LGMD2C) | | Swiss-Prot | VAR_010430 | Disease | p.GLY69ASP | Limb-girdle muscular dystrophy 2C (LGMD2C) |
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 |
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313104319
SGCG_HUMAN RecName: Full=Gamma-sarcoglycan; Short=Gamma-SG; AltName: Full=35 kDa dystrophin-associated glycoprotein; Short=35DAG
3
2
0
0
5
