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Known Diseases associated with this Protein: | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
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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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dbSNP | rs61995747 | Polymorphism | p.ALA75PRO | N/A | dbSNP | rs6428388 | Polymorphism | p.ARG430GLY | N/A | dbSNP | rs77736715 | Polymorphism | p.CYS302TYR | N/A | dbSNP | rs7528827 | Polymorphism | p.HIS1673ARG | N/A | dbSNP | rs16841081 | Polymorphism | p.SER1090PHE | N/A | OMIM | 605481.0007 | Disease | p.ARG117TER | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | OMIM | 605481.0010 | Disease | p.ARG797TER | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | OMIM | 605481.0005 | Disease | p.GLN1475TER | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | OMIM | 605481.0006 | Disease | p.TRP1326TER | MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | OMIM | 605481.0008 | Disease | p.TYR1TER | MICROCEPHALY 5, 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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