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Known Diseases associated with this Protein: |  SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT
| SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (SPG8)
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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_031955 | Disease | p.ASN471ASP | Spastic paraplegia 8, autosomal dominant (SPG8) | | Swiss-Prot | VAR_069985 | Disease | p.GLY696ALA | Spastic paraplegia 8, autosomal dominant (SPG8) | | Swiss-Prot | VAR_069984 | Disease | p.ILE226THR | Spastic paraplegia 8, autosomal dominant (SPG8) | | Swiss-Prot | VAR_031956 | Disease | p.LEU619PHE | Spastic paraplegia 8, autosomal dominant (SPG8) | | Swiss-Prot | VAR_031957 | Disease | p.VAL626PHE | Spastic paraplegia 8, autosomal dominant (SPG8) | | OMIM | 610657.0003 | Disease | p.ASN471ASP | SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT | | OMIM | 610657.0005 | Disease | p.GLY696ALA | SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT | | OMIM | 610657.0002 | Disease | p.LEU619PHE | SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT | | OMIM | 610657.0001 | Disease | p.VAL626PHE | SPASTIC PARAPLEGIA 8, 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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2495719
STRUM_HUMAN RecName: Full=WASH complex subunit strumpellin
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