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Known Diseases associated with this Protein: |  CONGENITAL DISORDER OF GLYCOSYLATION 1D (CDG1D)
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID
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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_037806 | Disease | p.ARG171GLN | Congenital disorder of glycosylation 1D (CDG1D) | | Swiss-Prot | VAR_010306 | Disease | p.GLY118ASP | Congenital disorder of glycosylation 1D (CDG1D) | | dbSNP | rs2233463 | Polymorphism | p.ILE107VAL | N/A | | OMIM | 608750.0003 | Disease | p.ARG171GLN | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | | OMIM | 608750.0001 | Disease | p.GLY118ASP | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | | OMIM | 608750.0005 | Disease | p.MET157LYS | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | | OMIM | 608750.0004 | Disease | p.TRP71ARG | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id |
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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3024226
ALG3_HUMAN RecName: Full=Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase; AltName: Full=Asparagine-linked glycosylation protein 3 homolog; AltName: Full=Dol-P-Man-dependent alpha(1-3)-mannosyltransferase; AltName: Full=Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase; AltName: Full=Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase; AltName: Full=Not56-like protein
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