|  | 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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| dbSNP | rs470117 | Polymorphism | p.GLU531LYS | N/A | | dbSNP | rs2269383 | Polymorphism | p.GLY320ASP | N/A | | dbSNP | rs3213445 | Polymorphism | p.ILE66VAL | N/A | | dbSNP | rs8142477 | Polymorphism | p.SER427CYS | N/A | | Swiss-Prot | VAR_011740 | Polymorphism | p.SER664TYR | N/A |
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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2493497
CPT1B_HUMAN RecName: Full=Carnitine O-palmitoyltransferase 1, muscle isoform; Short=CPT1-M; AltName: Full=Carnitine O-palmitoyltransferase I, muscle isoform; Short=CPT I; Short=CPTI-M; AltName: Full=Carnitine palmitoyltransferase 1B; AltName: Full=Carnitine palmitoyltransferase I-like protein
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