Known Diseases associated with this Protein: |  MYASTHENIA, LIMB-GIRDLE, FAMILIAL
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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 | rs16844422 | Polymorphism | p.ARG193GLN | N/A | | dbSNP | rs59932476 | Polymorphism | p.GLY248ARG | N/A | | OMIM | 610285.0007 | Disease | p.ARG197TER | MYASTHENIA, LIMB-GIRDLE, FAMILIAL | | OMIM | 610285.0006 | Disease | p.GLY176ALA | MYASTHENIA, LIMB-GIRDLE, FAMILIAL |
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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257467680
protein Dok-7 isoform 2 [Homo sapiens]
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