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Known Diseases associated with this Protein: |  SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
| SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (SPG11)
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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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| dbSNP | rs3759873 | Polymorphism | p.ILE450VAL | N/A | | Swiss-Prot | VAR_058417 | Disease | p.PHE1349ILE | Spastic paraplegia 11, autosomal recessive (SPG11) | | dbSNP | rs3759871 | Polymorphism | p.PHE463SER | N/A | | Swiss-Prot | VAR_032307 | Polymorphism | p.TYR396CYS | N/A | | OMIM | 610844.0001 | Disease | p.ARG2034TER | SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE | | OMIM | 610844.0008 | Disease | p.GLN1875TER | SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE |
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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296452946
SPTCS_HUMAN RecName: Full=Spatacsin; AltName: Full=Colorectal carcinoma-associated protein; AltName: Full=Spastic paraplegia 11 protein
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