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Known Diseases associated with this Protein: |  CONGENITAL DISORDER OF GLYCOSYLATION 1M (CDG1M)
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM
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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_049709 | Polymorphism | p.ASP224VAL | N/A | | Swiss-Prot | VAR_032851 | Disease | p.CYS99SER | Congenital disorder of glycosylation 1M (CDG1M) | | Swiss-Prot | VAR_032852 | Disease | p.TYR441SER | Congenital disorder of glycosylation 1M (CDG1M) | | dbSNP | rs28365523 | Polymorphism | p.VAL121GLY | N/A | | OMIM | 610746.0001 | Disease | p.CYS99SER | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im | | OMIM | 610746.0003 | Disease | p.HIS408ASP | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im | | OMIM | 610746.0004 | Disease | p.TRP304CYS | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im | | OMIM | 610746.0002 | Disease | p.TYR441SER | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im |
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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20140913
DOLK_HUMAN RecName: Full=Dolichol kinase; AltName: Full=Transmembrane protein 15
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