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Known Diseases associated with this Protein: |  ARTHROGRYPOSIS, RENAL DYSFUNCTION AND CHOLESTASIS SYNDROME 1 (ARCS1)
| ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
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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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| Sec1 | pfam00995 | 2.8e-128 | 36 | 612 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs11542638 | Polymorphism | p.ARG51GLY | N/A | | dbSNP | rs11073964 | Polymorphism | p.GLY514SER | N/A | | Swiss-Prot | VAR_018983 | Disease | p.LEU30PRO | Arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1) | | Swiss-Prot | VAR_057330 | Polymorphism | p.PHE513SER | N/A | | Swiss-Prot | VAR_057901 | Disease | p.SER243PHE | Arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1) | | OMIM | 608552.0002 | Disease | p.ARG438TER | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 | | OMIM | 608552.0001 | Disease | p.ARG532TER | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 | | OMIM | 608552.0003 | Disease | p.LEU30PRO | ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 |
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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313104046
VP33B_HUMAN RecName: Full=Vacuolar protein sorting-associated protein 33B; Short=hVPS33B
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