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Known Diseases associated with this Protein: |  SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT
| SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (SPG12)
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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_053632 | Polymorphism | p.ARG425GLN | N/A | | Swiss-Prot | VAR_067562 | Disease | p.SER367PHE | Spastic paraplegia 12, autosomal dominant (SPG12) | | OMIM | 603183.0003 | Disease | p.SER367PHE | SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT |
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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13633878
RTN2_HUMAN RecName: Full=Reticulon-2; AltName: Full=Neuroendocrine-specific protein-like 1; Short=NSP-like protein 1; AltName: Full=Neuroendocrine-specific protein-like I; Short=NSP-like protein I; Short=NSPLI
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