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Known Diseases associated with this Protein: |  TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
| TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (TPBS)
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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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| dbSNP | rs62621399 | Polymorphism | p.ARG705PRO | N/A | | dbSNP | rs62621400 | Polymorphism | p.ARG588THR | N/A | | Swiss-Prot | VAR_028009 | Polymorphism | p.GLN652HIS | N/A | | Swiss-Prot | VAR_065822 | Disease | p.PRO539ARG | Temtamy preaxial brachydactyly syndrome (TPBS) | | dbSNP | rs3743193 | Polymorphism | p.PRO359SER | N/A | | OMIM | 608183.0003 | Disease | p.GLN69TER | TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME | | OMIM | 608183.0005 | Disease | p.PRO539ARG | TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME |
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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116241296
CHSS1_HUMAN RecName: Full=Chondroitin sulfate synthase 1; AltName: Full=Chondroitin glucuronyltransferase 1; AltName: Full=Chondroitin synthase 1; Short=ChSy-1; AltName: Full=Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1; AltName: Full=N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1; AltName: Full=N-acetylgalactosaminyltransferase 1
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