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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_012821 | Disease | p.ALA486VAL | Hereditary multiple exostoses 1 (EXT1) | | Swiss-Prot | VAR_002373 | Disease | p.ARG340CYS | Hereditary multiple exostoses 1 (EXT1) | | Swiss-Prot | VAR_002370 | Disease | p.ARG280GLY | Hereditary multiple exostoses 1 (EXT1) | | Swiss-Prot | VAR_002374 | Disease | p.ARG340HIS | Hereditary multiple exostoses 1 (EXT1) | | Swiss-Prot | VAR_002375 | Disease | p.ARG340LEU | Hereditary multiple exostoses 1 (EXT1) | | Swiss-Prot | VAR_002371 | Disease | p.ARG280SER | Hereditary multiple exostoses 1 (EXT1) | | Swiss-Prot | VAR_002376 | Disease | p.ARG340SER | Hereditary multiple exostoses 1 (EXT1) | | Swiss-Prot | VAR_012820 | Disease | p.ASN316SER | Chondrosarcoma (CHDSA) | | Swiss-Prot | VAR_012816 | Disease | p.ASP164HIS | Hereditary multiple exostoses 1 (EXT1) | | Swiss-Prot | VAR_012815 | Disease | p.GLN27LYS | Hereditary multiple exostoses 1 (EXT1) | | Swiss-Prot | VAR_002372 | Disease | p.GLY339ASP | Hereditary multiple exostoses 1 (EXT1) | | Swiss-Prot | VAR_012822 | Disease | p.PRO496LEU | Hereditary multiple exostoses 1 (EXT1) | | OMIM | 608177.0009 | Disease | p.ARG340CYS | EXOSTOSES, MULTIPLE, TYPE I | | OMIM | 608177.0004 | Disease | p.ARG340LEU | EXOSTOSES, MULTIPLE, TYPE I | | OMIM | 608177.0007 | Disease | p.GLY339ASP | EXOSTOSES, MULTIPLE, TYPE I | | OMIM | 608177.0008 | Disease | p.TYR119TER | EXOSTOSES, MULTIPLE, TYPE I |
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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20141422
EXT1_HUMAN RecName: Full=Exostosin-1; AltName: Full=Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; AltName: Full=Multiple exostoses protein 1; AltName: Full=Putative tumor suppressor protein EXT1
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