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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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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 300823.0013 | Disease | p.ARG378GLN | MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM | | OMIM | 300823.0015 | Disease | p.ARG378LEU | MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM | | OMIM | 300823.0001 | Disease | p.ARG353TER | MUCOPOLYSACCHARIDOSIS TYPE II | | OMIM | 300823.0005 | Disease | p.ARG82TER | MUCOPOLYSACCHARIDOSIS TYPE II | | OMIM | 300823.0012 | Disease | p.ARG378TRP | MUCOPOLYSACCHARIDOSIS TYPE II, MILD FORM | | OMIM | 300823.0008 | Disease | p.CYS332GLY | MUCOPOLYSACCHARIDOSIS TYPE II | | OMIM | 300823.0009 | Disease | p.LYS45ARG | MUCOPOLYSACCHARIDOSIS TYPE II | | OMIM | 300823.0004 | Disease | p.PRO70ARG | MUCOPOLYSACCHARIDOSIS TYPE II | | OMIM | 300823.0002 | Disease | p.SER243LEU | MUCOPOLYSACCHARIDOSIS TYPE II | | OMIM | 300823.0003 | Disease | p.TRP412SER | MUCOPOLYSACCHARIDOSIS TYPE II | | OMIM | 300823.0010 | Disease | p.TRP385TER | MUCOPOLYSACCHARIDOSIS 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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262118210
iduronate 2-sulfatase isoform c [Homo sapiens]
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