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Known Diseases associated with this Protein: |  MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (MCPH9)
| SECKEL SYNDROME 5 (SCKL5)
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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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| Swiss-Prot | VAR_063813 | Disease | p.GLN265PRO | Microcephaly 9, primary, autosomal recessive (MCPH9) | | Swiss-Prot | VAR_050780 | Polymorphism | p.LEU914VAL | N/A | | Swiss-Prot | VAR_065258 | Disease | p.LYS667ARG | Seckel syndrome 5 (SCKL5) | | Swiss-Prot | VAR_050779 | Polymorphism | p.SER793ILE | N/A | | Swiss-Prot | VAR_047932 | Polymorphism | p.SER54LEU | N/A | | Swiss-Prot | VAR_050781 | Polymorphism | p.VAL1106ALA | N/A |
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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519668686
CE152_HUMAN RecName: Full=Centrosomal protein of 152 kDa; Short=Cep152
2
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0
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