Known Diseases associated with this Protein: |  MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
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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_059839 | Polymorphism | p.ARG448GLY | N/A | | dbSNP | rs61903295 | Polymorphism | p.PHE266LEU | N/A | | dbSNP | rs644799 | Polymorphism | p.PHE448LEU | N/A | | OMIM | 607951.0003 | Disease | p.ARG81TER | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 |
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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56748768
CEP57_HUMAN RecName: Full=Centrosomal protein of 57 kDa; Short=Cep57; AltName: Full=FGF2-interacting protein; AltName: Full=Testis-specific protein 57; AltName: Full=Translokin
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