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Known Diseases associated with this Protein: | SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
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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 Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs3742884 | Polymorphism | p.ALA1122VAL | N/A | dbSNP | rs3742883 | Polymorphism | p.ASN1891SER | N/A | dbSNP | rs2235967 | Polymorphism | p.CYS1457TYR | N/A | dbSNP | rs34059852 | Polymorphism | p.LYS429GLU | N/A | dbSNP | rs3742885 | Polymorphism | p.PRO1103LEU | N/A | dbSNP | rs112787369 | Polymorphism | p.SER1040THR | N/A | dbSNP | rs35471427 | Polymorphism | p.THR951MET | N/A | dbSNP | rs17192170 | Polymorphism | p.THR898SER | N/A | OMIM | 612012.0001 | Disease | p.ARG1438TER | SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE | OMIM | 612012.0006 | Disease | p.GLN1808TER | SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE | OMIM | 612012.0004 | Disease | p.GLN493TER | SPASTIC PARAPLEGIA 15, 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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