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Known Diseases associated with this Protein: |  MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE
| MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE (MCPH6)
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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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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| dbSNP | rs7336216 | Polymorphism | p.ASP63HIS | N/A | | Swiss-Prot | VAR_032431 | Polymorphism | p.GLU151GLY | N/A | | Swiss-Prot | VAR_032433 | Disease | p.GLU1235VAL | Microcephaly 6, primary, autosomal recessive (MCPH6) | | dbSNP | rs35498994 | Polymorphism | p.MET21LEU | N/A | | Swiss-Prot | VAR_032427 | Polymorphism | p.MET21VAL | N/A | | dbSNP | rs17081389 | Polymorphism | p.PRO55ALA | N/A | | dbSNP | rs9511510 | Polymorphism | p.PRO85THR | N/A | | dbSNP | rs17402892 | Polymorphism | p.SER879ALA | N/A | | OMIM | 609279.0002 | Disease | p.GLU1235VAL | MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE | | OMIM | 609279.0005 | Disease | p.THR821MET | MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE |
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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62899891
CENPJ_HUMAN RecName: Full=Centromere protein J; Short=CENP-J; AltName: Full=Centrosomal P4.1-associated protein; AltName: Full=LAG-3-associated protein; AltName: Full=LYST-interacting protein 1
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