Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF
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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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| OMIM | 108733.0001 | Disease | p.VAL586MET | DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF |
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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14286115
AT2B2_HUMAN RecName: Full=Plasma membrane calcium-transporting ATPase 2; Short=PMCA2; AltName: Full=Plasma membrane calcium ATPase isoform 2; AltName: Full=Plasma membrane calcium pump isoform 2
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