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Known Diseases associated with this Protein: |  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ
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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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| Cog4 | smart00762 | 3.4e-136 | 192 | 502 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs3931036 | Polymorphism | p.THR162ILE | N/A | | OMIM | 606976.0001 | Disease | p.ARG729TRP | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | | OMIM | 606976.0003 | Disease | p.GLU233TER | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | | OMIM | 606976.0004 | Disease | p.LEU773ARG | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj |
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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118498354
conserved oligomeric Golgi complex subunit 4 isoform 1 [Homo sapiens]
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