Known Diseases associated with this Protein: |  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
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Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_045836 | Polymorphism | p.ILE65VAL | N/A | | Swiss-Prot | VAR_069369 | Polymorphism | p.MET247VAL | N/A | | OMIM | 601385.0002 | Disease | p.GLN55TER | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 |
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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6166601
TUSC3_HUMAN RecName: Full=Tumor suppressor candidate 3; AltName: Full=Magnesium uptake/transporter TUSC3; AltName: Full=Protein N33; Flags: Precursor
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