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Known Diseases associated with this Protein: | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLJ (MAHCJ)
| METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE
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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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dbSNP | rs4148077 | Polymorphism | p.ALA304THR | N/A | dbSNP | rs61744947 | Polymorphism | p.ALA128VAL | N/A | dbSNP | rs58272575 | Polymorphism | p.GLN59ARG | N/A | dbSNP | rs3742801 | Polymorphism | p.GLU368LYS | N/A | Swiss-Prot | VAR_048135 | Polymorphism | p.THR350ARG | N/A | Swiss-Prot | VAR_069097 | Disease | p.TYR319CYS | Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) | dbSNP | rs34992370 | Polymorphism | p.VAL172ILE | N/A | OMIM | 603214.0001 | Disease | p.TYR319CYS | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE |
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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