Known Diseases associated with this Protein: |  MUCOPOLYSACCHARIDOSIS TYPE II
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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 | 300823.0005 | Disease | p.ARG172TER | MUCOPOLYSACCHARIDOSIS TYPE II | | OMIM | 300823.0009 | Disease | p.LYS135ARG | MUCOPOLYSACCHARIDOSIS TYPE II | | OMIM | 300823.0004 | Disease | p.PRO160ARG | MUCOPOLYSACCHARIDOSIS TYPE II | | OMIM | 300823.0002 | Disease | p.SER333LEU | 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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5360208
iduronate 2-sulfatase isoform b precursor [Homo sapiens]
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