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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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| BRLZ | smart00338 | 1.1e-11 | 284 | 350 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_029369 | Disease | p.ARG288PRO | Cataract 21, multiple types (CTRCT21) | | Swiss-Prot | VAR_029370 | Disease | p.LYS297ARG | Cataract 21, multiple types (CTRCT21) | | OMIM | 177075.0001 | Disease | p.ARG288PRO | CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | | OMIM | 177075.0002 | Disease | p.LYS297ARG | CATARACT 21, CERULEAN, WITH OR WITHOUT MICROCORNEA |
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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223590080
MAF_HUMAN RecName: Full=Transcription factor Maf; AltName: Full=Proto-oncogene c-Maf; AltName: Full=V-maf musculoaponeurotic fibrosarcoma oncogene homolog
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