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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_068179 | Disease | p.ARG377HIS | Mental retardation, autosomal dominant 15 (MRD15) | | OMIM | 601607.0014 | Disease | p.ARG37HIS | MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 | | OMIM | 601607.0013 | Disease | p.ARG377HIS | MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 | | OMIM | 601607.0005 | Disease | p.GLN12TER | SCHWANNOMATOSIS | | OMIM | 601607.0006 | Disease | p.GLN182TER | SCHWANNOMATOSIS, SOMATIC | | OMIM | 601607.0010 | Disease | p.GLU31VAL | SCHWANNOMATOSIS | | OMIM | 601607.0011 | Disease | p.PRO48LEU | SCHWANNOMATOSIS |
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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51338799
SNF5_HUMAN RecName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; AltName: Full=BRG1-associated factor 47; Short=BAF47; AltName: Full=Integrase interactor 1 protein; AltName: Full=SNF5 homolog; Short=hSNF5
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