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Known Diseases associated with this Protein: |  TYROSINEMIA 2 (TYRO2)
| TYROSINEMIA, TYPE II
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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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| Swiss-Prot | VAR_048226 | Polymorphism | p.ASN70ASP | N/A | | Swiss-Prot | VAR_000560 | Disease | p.GLY362VAL | Tyrosinemia 2 (TYRO2) | | dbSNP | rs74344827 | Polymorphism | p.PRO15SER | N/A | | OMIM | 613018.0003 | Disease | p.ARG417TER | TYROSINEMIA, TYPE II | | OMIM | 613018.0001 | Disease | p.ARG57TER | TYROSINEMIA, TYPE II | | OMIM | 613018.0002 | Disease | p.SER223TER | TYROSINEMIA, TYPE II |
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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114713
ATTY_HUMAN RecName: Full=Tyrosine aminotransferase; Short=TAT; AltName: Full=L-tyrosine:2-oxoglutarate aminotransferase
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