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Known Diseases associated with this Protein: |  EXOSTOSES, MULTIPLE, TYPE II
| HEREDITARY MULTIPLE EXOSTOSES 2 (EXT2)
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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_012826 | Disease | p.ALA202VAL | Hereditary multiple exostoses 2 (EXT2) | | Swiss-Prot | VAR_012827 | Disease | p.ARG223PRO | Hereditary multiple exostoses 2 (EXT2) | | Swiss-Prot | VAR_012825 | Disease | p.ARG179SER | Hereditary multiple exostoses 2 (EXT2) | | Swiss-Prot | VAR_002378 | Disease | p.ASP227ASN | Hereditary multiple exostoses 2 (EXT2) | | Swiss-Prot | VAR_012823 | Disease | p.CYS85ARG | Hereditary multiple exostoses 2 (EXT2) | | Swiss-Prot | VAR_012829 | Polymorphism | p.GLU576LYS | N/A | | Swiss-Prot | VAR_012828 | Disease | p.ILE380THR | Hereditary multiple exostoses 2 (EXT2) | | Swiss-Prot | VAR_012824 | Disease | p.LEU152ARG | Hereditary multiple exostoses 2 (EXT2) | | dbSNP | rs4755779 | Polymorphism | p.MET42VAL | N/A | | OMIM | 608210.0004 | Disease | p.ASP194ASN | EXOSTOSES, MULTIPLE, TYPE II | | OMIM | 608210.0002 | Disease | p.GLN139TER | EXOSTOSES, MULTIPLE, TYPE II | | OMIM | 608210.0006 | Disease | p.GLN225TER | EXOSTOSES, MULTIPLE, TYPE II | | OMIM | 608210.0005 | Disease | p.TYR189TER | EXOSTOSES, MULTIPLE, 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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3023739
EXT2_HUMAN RecName: Full=Exostosin-2; AltName: Full=Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; AltName: Full=Multiple exostoses protein 2; AltName: Full=Putative tumor suppressor protein EXT2
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