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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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| dbSNP | rs45559835 | Polymorphism | p.ARG96GLN | N/A | | dbSNP | rs202223676 | Polymorphism | p.ARG30GLY | N/A | | Swiss-Prot | VAR_010396 | Disease | p.GLU261LYS | Limb-girdle muscular dystrophy 2F (LGMD2F) | | Swiss-Prot | VAR_013181 | Disease | p.SER150ALA | Cardiomyopathy, dilated 1L (CMD1L) | | OMIM | 601411.0007 | Disease | p.ALA130PRO | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F | | OMIM | 601411.0002 | Disease | p.ARG164TER | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F | | OMIM | 601411.0004 | Disease | p.GLU261LYS | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F | | OMIM | 601411.0006 | Disease | p.SER150ALA | CARDIOMYOPATHY, DILATED, 1L||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, DIGENIC, INCLUDED | | OMIM | 601411.0003 | Disease | p.TRP29TER | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F |
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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212276471
SGCD_HUMAN RecName: Full=Delta-sarcoglycan; Short=Delta-SG; AltName: Full=35 kDa dystrophin-associated glycoprotein; Short=35DAG
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