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Known Diseases associated with this Protein: | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
| SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (SPG7)
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_063603 | Polymorphism | p.ALA2THR | N/A | Swiss-Prot | VAR_063613 | Polymorphism | p.ALA603THR | N/A | Swiss-Prot | VAR_063609 | Disease | p.ALA510VAL | Spastic paraplegia 7, autosomal recessive (SPG7) | Swiss-Prot | VAR_063608 | Polymorphism | p.ARG486GLN | N/A | dbSNP | rs12960 | Polymorphism | p.ARG688GLN | N/A | Swiss-Prot | VAR_063606 | Polymorphism | p.ARG294HIS | N/A | dbSNP | rs35749032 | Polymorphism | p.ASN730ASP | N/A | Swiss-Prot | VAR_063615 | Polymorphism | p.ASP650HIS | N/A | Swiss-Prot | VAR_063607 | Disease | p.GLY349SER | Spastic paraplegia 7, autosomal recessive (SPG7) | Swiss-Prot | VAR_048117 | Polymorphism | p.PHE623CYS | N/A | Swiss-Prot | VAR_063610 | Polymorphism | p.PHE545LEU | N/A | Swiss-Prot | VAR_063605 | Polymorphism | p.PHE284PRO | N/A | Swiss-Prot | VAR_063614 | Polymorphism | p.SER635LEU | N/A | Swiss-Prot | VAR_059086 | Polymorphism | p.SER645THR | N/A | Swiss-Prot | VAR_045898 | Disease | p.SER692THR | Spastic paraplegia 7, autosomal recessive (SPG7) | dbSNP | rs2292954 | Polymorphism | p.THR503ALA | N/A | Swiss-Prot | VAR_063612 | Disease | p.TRP583CYS | Spastic paraplegia 7, autosomal recessive (SPG7) | OMIM | 602783.0012 | Disease | p.ALA510VAL | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | OMIM | 602783.0010 | Disease | p.GLY349SER | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | OMIM | 602783.0007 | Disease | p.LEU78TER | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | OMIM | 602783.0006 | Disease | p.SER692THR | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | OMIM | 602783.0011 | Disease | p.TRP583CYS | SPASTIC PARAPLEGIA 7, 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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