Known Diseases associated with this Protein: |  BRODY MYOPATHY
| BRODY MYOPATHY (BRM)
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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_015588 | Disease | p.PRO789LEU | Brody myopathy (BRM) | | OMIM | 108730.0001 | Disease | p.ARG198TER | BRODY MYOPATHY | | OMIM | 108730.0002 | Disease | p.CYS675TER | BRODY MYOPATHY | | OMIM | 108730.0005 | Disease | p.PRO789LEU | BRODY 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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12643544
AT2A1_HUMAN RecName: Full=Sarcoplasmic/endoplasmic reticulum calcium ATPase 1; Short=SERCA1; Short=SR Ca(2+)-ATPase 1; AltName: Full=Calcium pump 1; AltName: Full=Calcium-transporting ATPase sarcoplasmic reticulum type, fast twitch skeletal muscle isoform; AltName: Full=Endoplasmic reticulum class 1/2 Ca(2+) ATPase
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