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Known Diseases associated with this Protein: | CONGENITAL DISORDER OF GLYCOSYLATION 1B (CDG1B)
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_022519 | Disease | p.ARG152GLN | Congenital disorder of glycosylation 1B (CDG1B) | Swiss-Prot | VAR_012340 | Disease | p.ARG219GLN | Congenital disorder of glycosylation 1B (CDG1B) | Swiss-Prot | VAR_022522 | Disease | p.ARG295HIS | Congenital disorder of glycosylation 1B (CDG1B) | Swiss-Prot | VAR_022524 | Disease | p.ARG418HIS | Congenital disorder of glycosylation 1B (CDG1B) | Swiss-Prot | VAR_022518 | Disease | p.ASP131ASN | Congenital disorder of glycosylation 1B (CDG1B) | Swiss-Prot | VAR_022520 | Disease | p.GLY250SER | Congenital disorder of glycosylation 1B (CDG1B) | Swiss-Prot | VAR_012345 | Disease | p.ILE140THR | Congenital disorder of glycosylation 1B (CDG1B) | Swiss-Prot | VAR_022523 | Disease | p.ILE398THR | Congenital disorder of glycosylation 1B (CDG1B) | Swiss-Prot | VAR_012339 | Disease | p.MET138THR | Congenital disorder of glycosylation 1B (CDG1B) | Swiss-Prot | VAR_022516 | Disease | p.MET51THR | Congenital disorder of glycosylation 1B (CDG1B) | Swiss-Prot | VAR_012338 | Disease | p.SER102LEU | Congenital disorder of glycosylation 1B (CDG1B) | Swiss-Prot | VAR_022517 | Disease | p.TYR129CYS | Congenital disorder of glycosylation 1B (CDG1B) | Swiss-Prot | VAR_022521 | Disease | p.TYR255CYS | Congenital disorder of glycosylation 1B (CDG1B) | OMIM | 154550.0001 | Disease | p.ARG219GLN | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib | OMIM | 154550.0005 | Disease | p.ARG295HIS | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib | OMIM | 154550.0003 | Disease | p.MET138THR | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib | OMIM | 154550.0002 | Disease | p.SER102LEU | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib |
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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