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Known Diseases associated with this Protein: |  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, INCLUDED
| RIGID SPINE MUSCULAR DYSTROPHY 1
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs74060854 | Polymorphism | p.ARG548GLN | N/A | | dbSNP | rs2294228 | Polymorphism | p.ASN468LYS | N/A | | dbSNP | rs7349185 | Polymorphism | p.CYS108TYR | N/A | | OMIM | 606210.0004 | Disease | p.ARG432GLN | RIGID SPINE MUSCULAR DYSTROPHY 1 | | OMIM | 606210.0001 | Disease | p.GLY239GLU | RIGID SPINE MUSCULAR DYSTROPHY 1 | | OMIM | 606210.0008 | Disease | p.GLY281SER | RIGID SPINE MUSCULAR DYSTROPHY 1||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, INCLUDED | | OMIM | 606210.0003 | Disease | p.MET1VAL | RIGID SPINE MUSCULAR DYSTROPHY 1 | | OMIM | 606210.0007 | Disease | p.SEC428GLY | RIGID SPINE MUSCULAR DYSTROPHY 1 | | OMIM | 606210.0002 | Disease | p.SEC428TER | RIGID SPINE MUSCULAR DYSTROPHY 1 | | OMIM | 606210.0005 | Disease | p.TRP419SER | RIGID SPINE MUSCULAR DYSTROPHY 1 |
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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47578101
selenoprotein N isoform 2 precursor [Homo sapiens]
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