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Known Diseases associated with this Protein: |  CONGENITAL DISORDER OF GLYCOSYLATION 1L (CDG1L)
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IL
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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_049221 | Polymorphism | p.ALA232PRO | N/A | | dbSNP | rs10502151 | Polymorphism | p.CYS289TYR | N/A | | Swiss-Prot | VAR_023413 | Disease | p.GLU523LYS | Congenital disorder of glycosylation 1L (CDG1L) | | Swiss-Prot | VAR_049223 | Polymorphism | p.ILE528SER | N/A | | Swiss-Prot | VAR_023412 | Polymorphism | p.PRO506LEU | N/A | | Swiss-Prot | VAR_049222 | Polymorphism | p.SER255LEU | N/A | | Swiss-Prot | VAR_023410 | Disease | p.TYR287CYS | Congenital disorder of glycosylation 1L (CDG1L) | | Swiss-Prot | VAR_023411 | Polymorphism | p.VAL289ILE | N/A | | OMIM | 606941.0001 | Disease | p.GLU516LYS | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il | | OMIM | 606941.0002 | Disease | p.TYR286CYS | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il |
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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73921666
ALG9_HUMAN RecName: Full=Alpha-1,2-mannosyltransferase ALG9; AltName: Full=Asparagine-linked glycosylation protein 9 homolog; AltName: Full=Disrupted in bipolar disorder protein 1; AltName: Full=Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase; AltName: Full=Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
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