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Known Diseases associated with this Protein: | MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE (MCPH1)
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_046747 | Polymorphism | p.ALA212THR | N/A | Swiss-Prot | VAR_046750 | Polymorphism | p.ARG304ILE | N/A | Swiss-Prot | VAR_046746 | Polymorphism | p.ARG171SER | N/A | Swiss-Prot | VAR_046752 | Polymorphism | p.ASP392GLY | N/A | Swiss-Prot | VAR_046751 | Polymorphism | p.ASP314HIS | N/A | Swiss-Prot | VAR_046748 | Polymorphism | p.ILE264VAL | N/A | Swiss-Prot | VAR_046754 | Polymorphism | p.LEU602PHE | N/A | Swiss-Prot | VAR_046749 | Polymorphism | p.PRO288HIS | N/A | Swiss-Prot | VAR_046757 | Polymorphism | p.PRO828SER | N/A | Swiss-Prot | VAR_046753 | Polymorphism | p.SER580GLY | N/A | Swiss-Prot | VAR_046745 | Disease | p.THR27ARG | Microcephaly 1, primary, autosomal recessive (MCPH1) | Swiss-Prot | VAR_046755 | Polymorphism | p.THR682ASN | N/A | Swiss-Prot | VAR_046756 | Polymorphism | p.VAL761ALA | 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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