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Known Diseases associated with this Protein: |  CONGENITAL DISORDER OF GLYCOSYLATION 1C (CDG1C)
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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_013443 | Disease | p.ALA333VAL | Congenital disorder of glycosylation 1C (CDG1C) | | Swiss-Prot | VAR_022513 | Disease | p.GLY227GLU | Congenital disorder of glycosylation 1C (CDG1C) | | Swiss-Prot | VAR_055493 | Polymorphism | p.LYS226ASN | N/A | | Swiss-Prot | VAR_013442 | Polymorphism | p.PHE304SER | N/A | | Swiss-Prot | VAR_022514 | Disease | p.SER308ARG | Congenital disorder of glycosylation 1C (CDG1C) | | Swiss-Prot | VAR_022512 | Disease | p.SER170ILE | Congenital disorder of glycosylation 1C (CDG1C) | | Swiss-Prot | VAR_013444 | Disease | p.SER478PRO | Congenital disorder of glycosylation 1C (CDG1C) | | Swiss-Prot | VAR_022511 | Disease | p.TYR131HIS | Congenital disorder of glycosylation 1C (CDG1C) |
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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21263380
ALG6_HUMAN RecName: Full=Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase; AltName: Full=Asparagine-linked glycosylation protein 6 homolog; AltName: Full=Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase; AltName: Full=Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
6
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