Known Diseases associated with this Protein: |  SPINAL MUSCULAR ATROPHY X-LINKED 2 (SMAX2)
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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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| dbSNP | rs2070169 | Polymorphism | p.ARG447HIS | N/A | | Swiss-Prot | VAR_043501 | Disease | p.MET539ILE | Spinal muscular atrophy X-linked 2 (SMAX2) | | Swiss-Prot | VAR_043502 | Disease | p.SER547GLY | Spinal muscular atrophy X-linked 2 (SMAX2) |
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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24418865
UBA1_HUMAN RecName: Full=Ubiquitin-like modifier-activating enzyme 1; AltName: Full=Protein A1S9; AltName: Full=Ubiquitin-activating enzyme E1
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