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Known Diseases associated with this Protein: |  TYPE IIB CONGENITAL DISORDER OF GLYCOSYLATION (CDGIIB)
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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 | rs34075781 | Polymorphism | p.ARG495PRO | N/A | | Swiss-Prot | VAR_018966 | Disease | p.ARG486THR | Type IIb congenital disorder of glycosylation (CDGIIb) | | dbSNP | rs1063588 | Polymorphism | p.ASP239ASN | N/A | | Swiss-Prot | VAR_019361 | Polymorphism | p.GLU236GLN | N/A | | Swiss-Prot | VAR_049233 | Polymorphism | p.GLY222ARG | N/A | | dbSNP | rs35533773 | Polymorphism | p.GLY785SER | N/A | | Swiss-Prot | VAR_018967 | Disease | p.PHE652LEU | Type IIb congenital disorder of glycosylation (CDGIIb) | | dbSNP | rs2268416 | Polymorphism | p.PRO293SER | N/A |
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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116242490
MOGS_HUMAN RecName: Full=Mannosyl-oligosaccharide glucosidase; AltName: Full=Processing A-glucosidase I
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