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Known Diseases associated with this Protein: |  NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY
| NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (NLSDM)
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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_032997 | Polymorphism | p.ASN252LYS | N/A | | Swiss-Prot | VAR_032996 | Polymorphism | p.LEU219PHE | N/A | | Swiss-Prot | VAR_032998 | Polymorphism | p.LEU481PRO | N/A | | Swiss-Prot | VAR_032995 | Disease | p.PRO195LEU | Neutral lipid storage disease with myopathy (NLSDM) | | OMIM | 609059.0006 | Disease | p.GLN250PRO | NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY | | OMIM | 609059.0004 | Disease | p.GLN289TER | NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY | | OMIM | 609059.0002 | Disease | p.PRO195LEU | NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY |
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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74731110
PLPL2_HUMAN RecName: Full=Patatin-like phospholipase domain-containing protein 2; AltName: Full=Adipose triglyceride lipase; AltName: Full=Calcium-independent phospholipase A2; AltName: Full=Desnutrin; AltName: Full=IPLA2-zeta; AltName: Full=Pigment epithelium-derived factor; AltName: Full=TTS2.2; AltName: Full=Transport-secretion protein 2; Short=TTS2
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