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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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OMIM | 603824.0007 | Disease | p.ALA595THR | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE | OMIM | 603824.0012 | Disease | p.ALA424VAL | NONAKA MYOPATHY | OMIM | 603824.0015 | Disease | p.ALA595VAL | NONAKA MYOPATHY | OMIM | 603824.0010 | Disease | p.ARG210GLN | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE | OMIM | 603824.0002 | Disease | p.ARG230GLN | SIALURIA | OMIM | 603824.0003 | Disease | p.ARG227LEU | SIALURIA | OMIM | 603824.0001 | Disease | p.ARG230TRP | SIALURIA | OMIM | 603824.0011 | Disease | p.ASP189ASN | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE | OMIM | 603824.0009 | Disease | p.CYS267TER | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE | OMIM | 603824.0014 | Disease | p.CYS267VAL | NONAKA MYOPATHY | OMIM | 603824.0006 | Disease | p.GLY540GLU | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE | OMIM | 603824.0005 | Disease | p.MET676THR | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE||NONAKA MYOPATHY, INCLUDED | OMIM | 603824.0016 | Disease | p.MET135VAL | INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE | OMIM | 603824.0013 | Disease | p.VAL536LEU | NONAKA MYOPATHY | OMIM | 603824.0008 | Disease | p.VAL660MET | 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.
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