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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_066745 | Polymorphism | p.GLU471GLY | N/A | | Swiss-Prot | VAR_066744 | Disease | p.HIS363ASN | Epilepsy, progressive myoclonic 4, with or without renal failure (EPM4) | | dbSNP | rs2228380 | Polymorphism | p.VAL396ILE | N/A | | OMIM | 602257.0003 | Disease | p.GLN288TER | EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE | | OMIM | 602257.0004 | Disease | p.TRP178TER | EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH RENAL FAILURE |
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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2498525
SCRB2_HUMAN RecName: Full=Lysosome membrane protein 2; AltName: Full=85 kDa lysosomal membrane sialoglycoprotein; Short=LGP85; AltName: Full=CD36 antigen-like 2; AltName: Full=Lysosome membrane protein II; Short=LIMP II; AltName: Full=Scavenger receptor class B member 2; AltName: CD_antigen=CD36
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