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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_068176 | Polymorphism | p.ARG93CYS | N/A | | Swiss-Prot | VAR_026828 | Disease | p.ARG356GLN | Albinism, oculocutaneous, 3 (OCA3) | | Swiss-Prot | VAR_026827 | Polymorphism | p.ARG326HIS | N/A | | OMIM | 115501.0007 | Disease | p.ARG93CYS | MELANESIAN BLOND HAIR | | OMIM | 115501.0004 | Disease | p.ARG356GLU | ALBINISM, OCULOCUTANEOUS, TYPE III | | OMIM | 115501.0003 | Disease | p.ARG373TER | ALBINISM, OCULOCUTANEOUS, TYPE III | | OMIM | 115501.0002 | Disease | p.SER166TER | ALBINISM, OCULOCUTANEOUS, TYPE III||ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF, INCLUDED |
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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12644141
TYRP1_HUMAN RecName: Full=5,6-dihydroxyindole-2-carboxylic acid oxidase; Short=DHICA oxidase; AltName: Full=Catalase B; AltName: Full=Glycoprotein 75; AltName: Full=Melanoma antigen gp75; AltName: Full=Tyrosinase-related protein 1; Short=TRP; Short=TRP-1; Short=TRP1; Flags: Precursor
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