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Known Diseases associated with this Protein: |  TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
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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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| OMIM | 601756.0002 | Disease | p.ARG162TER | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | | OMIM | 601756.0013 | Disease | p.CYS574GLY | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | | OMIM | 601756.0007 | Disease | p.GLN481TER | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | | OMIM | 601756.0005 | Disease | p.GLN592TER | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | | OMIM | 601756.0008 | Disease | p.THR272LYS | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | | OMIM | 601756.0009 | Disease | p.THR359LYS | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | | OMIM | 601756.0006 | Disease | p.TYR322TER | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL |
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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209572629
GALT3_HUMAN RecName: Full=Polypeptide N-acetylgalactosaminyltransferase 3; AltName: Full=Polypeptide GalNAc transferase 3; Short=GalNAc-T3; Short=pp-GaNTase 3; AltName: Full=Protein-UDP acetylgalactosaminyltransferase 3; AltName: Full=UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3
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