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Known Diseases associated with this Protein: |  HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLE COMPLEMENTATION 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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 Default View:
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs2287780 | Polymorphism | p.ARG415CYS | N/A | | dbSNP | rs10380 | Polymorphism | p.HIS595TYR | N/A | | dbSNP | rs1801394 | Polymorphism | p.ILE22MET | N/A | | dbSNP | rs10064631 | Polymorphism | p.LEU333VAL | N/A | | dbSNP | rs162036 | Polymorphism | p.LYS350ARG | N/A | | dbSNP | rs16879334 | Polymorphism | p.PRO450ARG | N/A | | dbSNP | rs1532268 | Polymorphism | p.SER175LEU | N/A | | dbSNP | rs2303080 | Polymorphism | p.SER257THR | N/A | | OMIM | 602568.0004 | Disease | p.GLY460ARG | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE | | OMIM | 602568.0007 | Disease | p.SER427LEU | HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION 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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169790958
methionine synthase reductase isoform 1 [Homo sapiens]
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