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Known Diseases associated with this Protein: |  CHANARIN-DORFMAN SYNDROME
| CHANARIN-DORFMAN SYNDROME (CDS)
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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_023388 | Disease | p.GLN130PRO | Chanarin-Dorfman syndrome (CDS) | | Swiss-Prot | VAR_023389 | Disease | p.GLU260LYS | Chanarin-Dorfman syndrome (CDS) | | Swiss-Prot | VAR_023387 | Disease | p.GLU7LYS | Chanarin-Dorfman syndrome (CDS) | | Swiss-Prot | VAR_057953 | Polymorphism | p.HIS82ARG | N/A | | Swiss-Prot | VAR_037574 | Polymorphism | p.ILE72THR | N/A | | Swiss-Prot | VAR_057954 | Disease | p.SER115GLY | Chanarin-Dorfman syndrome (CDS) | | OMIM | 604780.0004 | Disease | p.GLN130PRO | CHANARIN-DORFMAN SYNDROME | | OMIM | 604780.0007 | Disease | p.GLU260LYS | CHANARIN-DORFMAN SYNDROME | | OMIM | 604780.0005 | Disease | p.GLU7LYS | CHANARIN-DORFMAN SYNDROME | | OMIM | 604780.0002 | Disease | p.SER33TER | CHANARIN-DORFMAN SYNDROME |
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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73921640
ABHD5_HUMAN RecName: Full=1-acylglycerol-3-phosphate O-acyltransferase ABHD5; AltName: Full=Abhydrolase domain-containing protein 5; AltName: Full=Lipid droplet-binding protein CGI-58
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