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Known Diseases associated with this Protein: |  NEUROPATHY, HEREDITARY SENSORY, TYPE ID
| SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
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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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| GBP | pfam02263 | 1.5e-153 | 43 | 314 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 606439.0001 | Disease | p.ARG239CYS | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT | | OMIM | 606439.0013 | Disease | p.ARG416CYS | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT | | OMIM | 606439.0004 | Disease | p.ARG217GLN | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT | | OMIM | 606439.0014 | Disease | p.ARG415GLN | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT | | OMIM | 606439.0007 | Disease | p.ARG415TRP | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT | | OMIM | 606439.0010 | Disease | p.ASN355LYS | NEUROPATHY, HEREDITARY SENSORY, TYPE ID | | OMIM | 606439.0011 | Disease | p.GLU66GLN | NEUROPATHY, HEREDITARY SENSORY, TYPE ID | | OMIM | 606439.0003 | Disease | p.HIS258ARG | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT | | OMIM | 606439.0008 | Disease | p.LEU157TRP | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT | | OMIM | 606439.0006 | Disease | p.MET408VAL | SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT | | OMIM | 606439.0002 | Disease | p.SER259TYR | SPASTIC PARAPLEGIA 3, 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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189181742
atlastin-1 isoform b [Homo sapiens]
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