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Known Diseases associated with this Protein: |  CONGENITAL DISORDER OF GLYCOSYLATION 1H (CDG1H)
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IH
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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 | rs665278 | Polymorphism | p.ASN222SER | N/A | | Swiss-Prot | VAR_023482 | Disease | p.GLY275ASP | Congenital disorder of glycosylation 1H (CDG1H) | | Swiss-Prot | VAR_031596 | Polymorphism | p.ILE439THR | N/A | | Swiss-Prot | VAR_023480 | Disease | p.THR47PRO | Congenital disorder of glycosylation 1H (CDG1H) | | OMIM | 608103.0006 | Disease | p.GLY275ASP | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih | | OMIM | 608103.0004 | Disease | p.THR47PRO | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih |
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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143811361
ALG8_HUMAN RecName: Full=Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase; AltName: Full=Asparagine-linked glycosylation protein 8 homolog; AltName: Full=Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase; AltName: Full=Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase
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