Known Diseases associated with this Protein: |  SPINOCEREBELLAR ATAXIA, X-LINKED 1
| SPINOCEREBELLAR ATAXIA, X-LINKED 1 (SCAX1)
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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_069308 | Disease | p.GLY1107ASP | Spinocerebellar ataxia, X-linked 1 (SCAX1) | | Swiss-Prot | VAR_027928 | Polymorphism | p.ILE198MET | N/A | | OMIM | 300014.0001 | Disease | p.GLY1107ASP | SPINOCEREBELLAR ATAXIA, X-LINKED 1 |
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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116241261
AT2B3_HUMAN RecName: Full=Plasma membrane calcium-transporting ATPase 3; Short=PMCA3; AltName: Full=Plasma membrane calcium ATPase isoform 3; AltName: Full=Plasma membrane calcium pump isoform 3
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