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Known Diseases associated with this Protein: |  TN POLYAGGLUTINATION SYNDROME (TNPS)
| TN POLYAGGLUTINATION SYNDROME, SOMATIC
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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_069274 | Polymorphism | p.ALA143VAL | N/A | | dbSNP | rs17261572 | Polymorphism | p.ASP131GLU | N/A | | Swiss-Prot | VAR_069276 | Polymorphism | p.GLN222HIS | N/A | | Swiss-Prot | VAR_031911 | Disease | p.GLU152LYS | Tn polyagglutination syndrome (TNPS) | | Swiss-Prot | VAR_069275 | Disease | p.SER193PRO | Tn polyagglutination syndrome (TNPS) | | OMIM | 300611.0001 | Disease | p.ARG68TER | TN POLYAGGLUTINATION SYNDROME, SOMATIC | | OMIM | 300611.0002 | Disease | p.ASP131GLU | TN POLYAGGLUTINATION SYNDROME, SOMATIC | | OMIM | 300611.0003 | Disease | p.GLU152LYS | TN POLYAGGLUTINATION SYNDROME, SOMATIC | | OMIM | 300611.0004 | Disease | p.SER193PRO | TN POLYAGGLUTINATION SYNDROME, SOMATIC |
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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74751849
C1GLC_HUMAN RecName: Full=C1GALT1-specific chaperone 1; AltName: Full=C38H2-like protein 1; Short=C38H2-L1; AltName: Full=Core 1 beta1,3-galactosyltransferase 2; Short=C1Gal-T2; Short=C1GalT2; Short=Core 1 beta3-Gal-T2; AltName: Full=Core 1 beta3-galactosyltransferase-specific molecular chaperone
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