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Known Diseases associated with this Protein: |  CONGENITAL DISORDER OF GLYCOSYLATION 2K (CDG2K)
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_068446 | Disease | p.ARG126CYS | Congenital disorder of glycosylation 2K (CDG2K) | | Swiss-Prot | VAR_068447 | Disease | p.ARG126HIS | Congenital disorder of glycosylation 2K (CDG2K) | | Swiss-Prot | VAR_068448 | Disease | p.GLY304ARG | Congenital disorder of glycosylation 2K (CDG2K) | | OMIM | 614726.0003 | Disease | p.ARG126CYS | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk | | OMIM | 614726.0002 | Disease | p.ARG126HIS | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk | | OMIM | 614726.0004 | Disease | p.GLY304ARG | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk |
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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74718825
TM165_HUMAN RecName: Full=Transmembrane protein 165; AltName: Full=Transmembrane protein PT27; AltName: Full=Transmembrane protein TPARL; Flags: Precursor
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