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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_019446 | Disease | p.ALA161PRO | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_017147 | Disease | p.ARG239CYS | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_017146 | Disease | p.ARG217GLN | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_065512 | Disease | p.ARG415TRP | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_067660 | Disease | p.ARG495TRP | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_065510 | Disease | p.ASN355LYS | Neuropathy, hereditary sensory, 1D (HSN1D) | | Swiss-Prot | VAR_067659 | Disease | p.ASN440THR | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_058963 | Polymorphism | p.ASP43GLU | N/A | | Swiss-Prot | VAR_067655 | Disease | p.GLN154GLU | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_065508 | Disease | p.GLU66GLN | Neuropathy, hereditary sensory, 1D (HSN1D) | | Swiss-Prot | VAR_017148 | Disease | p.HIS258ARG | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_019447 | Disease | p.HIS247PRO | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_065509 | Disease | p.LEU157TRP | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_065511 | Disease | p.MET408VAL | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_058964 | Polymorphism | p.PHE193CYS | N/A | | Swiss-Prot | VAR_067658 | Disease | p.PHE413VAL | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_017149 | Disease | p.SER259TYR | Spastic paraplegia 3, autosomal dominant (SPG3) | | Swiss-Prot | VAR_067656 | Polymorphism | p.TYR196CYS | N/A | | Swiss-Prot | VAR_067657 | Disease | p.VAL253ILE | Spastic paraplegia 3, autosomal dominant (SPG3) | | 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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37999727
ATLA1_HUMAN RecName: Full=Atlastin-1; AltName: Full=Brain-specific GTP-binding protein; AltName: Full=GTP-binding protein 3; Short=GBP-3; Short=hGBP3; AltName: Full=Guanine nucleotide-binding protein 3; AltName: Full=Spastic paraplegia 3 protein A
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