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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 603824.0007 | Disease | p.ALA631THR | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE | | OMIM | 603824.0012 | Disease | p.ALA460VAL | NONAKA MYOPATHY | | OMIM | 603824.0015 | Disease | p.ALA631VAL | NONAKA MYOPATHY | | OMIM | 603824.0010 | Disease | p.ARG246GLN | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE | | OMIM | 603824.0002 | Disease | p.ARG266GLN | SIALURIA | | OMIM | 603824.0003 | Disease | p.ARG263LEU | SIALURIA | | OMIM | 603824.0001 | Disease | p.ARG266TRP | SIALURIA | | OMIM | 603824.0011 | Disease | p.ASP225ASN | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE | | OMIM | 603824.0009 | Disease | p.CYS303TER | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE | | OMIM | 603824.0014 | Disease | p.CYS303VAL | NONAKA MYOPATHY | | OMIM | 603824.0006 | Disease | p.GLY576GLU | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE | | OMIM | 603824.0005 | Disease | p.MET712THR | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE||NONAKA MYOPATHY, INCLUDED | | OMIM | 603824.0016 | Disease | p.MET171VAL | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE | | OMIM | 603824.0013 | Disease | p.VAL572LEU | NONAKA MYOPATHY | | OMIM | 603824.0008 | Disease | p.VAL696MET | INCLUSION BODY MYOPATHY 2, 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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190014632
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 1 [Homo sapiens]
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