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Known Diseases associated with this Protein: | CONGENITAL DISORDER OF GLYCOSYLATION 1F (CDG1F)
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF
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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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CTNS | smart00679 | 6.7e-07 | 167 | 198 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs10852891 | Polymorphism | p.ALA229THR | N/A | Swiss-Prot | VAR_021388 | Disease | p.GLY73GLU | Congenital disorder of glycosylation 1F (CDG1F) | dbSNP | rs16956808 | Polymorphism | p.GLY225SER | N/A | Swiss-Prot | VAR_021390 | Disease | p.LEU119PRO | Congenital disorder of glycosylation 1F (CDG1F) | Swiss-Prot | VAR_021389 | Disease | p.LEU74SER | Congenital disorder of glycosylation 1F (CDG1F) | OMIM | 604041.0001 | Disease | p.GLY73GLU | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | OMIM | 604041.0002 | Disease | p.LEU119PRO | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | OMIM | 604041.0005 | Disease | p.LEU74SER | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | OMIM | 604041.0003 | Disease | p.MET1THR | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If |
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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