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Known Diseases associated with this Protein: | MICROCEPHALY 4, 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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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs2412541 | Polymorphism | p.ALA486SER | N/A | dbSNP | rs8040502 | Polymorphism | p.ARG936GLY | N/A | dbSNP | rs7177192 | Polymorphism | p.ARG43THR | N/A | dbSNP | rs76371152 | Polymorphism | p.ILE269VAL | N/A | dbSNP | rs76098847 | Polymorphism | p.LYS1670ARG | N/A | dbSNP | rs17747633 | Polymorphism | p.LYS1285GLU | N/A | dbSNP | rs11858113 | Polymorphism | p.MET598THR | N/A | dbSNP | rs12911738 | Polymorphism | p.THR113ALA | N/A | dbSNP | rs16970911 | Polymorphism | p.THR1473ALA | N/A | OMIM | 609173.0001 | Disease | p.MET2041ILE | MICROCEPHALY 4, 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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