|  | 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_014204 | Disease | p.ARG248TRP | Caspase-8 deficiency (CASP8D) | | Swiss-Prot | VAR_020127 | Polymorphism | p.ASP285HIS | N/A | | Swiss-Prot | VAR_025816 | Polymorphism | p.SER219THR | N/A | | OMIM | 601763.0001 | Disease | p.ARG189TRP | CASPASE 8 DEFICIENCY | | OMIM | 601763.0003 | Disease | p.ASP243HIS | BREAST CANCER, PROTECTION AGAINST |
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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2493531
CASP8_HUMAN RecName: Full=Caspase-8; Short=CASP-8; AltName: Full=Apoptotic cysteine protease; AltName: Full=Apoptotic protease Mch-5; AltName: Full=CAP4; AltName: Full=FADD-homologous ICE/ced-3-like protease; AltName: Full=FADD-like ICE; Short=FLICE; AltName: Full=ICE-like apoptotic protease 5; AltName: Full=MORT1-associated ced-3 homolog; Short=MACH; Contains: RecName: Full=Caspase-8 subunit p18; Contains: RecName: Full=Caspase-8 subunit p10; Flags: Precursor
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