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Known Diseases associated with this Protein: |  AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
| AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE (ALS16)
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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_029751 | Polymorphism | p.ARG211GLN | N/A | | dbSNP | rs1800866 | Polymorphism | p.GLN2PRO | N/A | | Swiss-Prot | VAR_067311 | Disease | p.GLU102GLN | Amyotrophic lateral sclerosis 16, juvenile (ALS16) | | OMIM | 601978.0001 | Disease | p.GLU102GLN | AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE |
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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74752153
SGMR1_HUMAN RecName: Full=Sigma non-opioid intracellular receptor 1; AltName: Full=Aging-associated gene 8 protein; AltName: Full=SR31747-binding protein; Short=SR-BP; AltName: Full=Sigma 1-type opioid receptor; Short=SIG-1R; Short=Sigma1-receptor; Short=Sigma1R; Short=hSigmaR1
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