Known Diseases associated with this Protein: |  MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
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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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| Swiss-Prot | VAR_062215 | Polymorphism | p.SER683GLY | N/A | | OMIM | 613667.0001 | Disease | p.ARG661TER | MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS |
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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206729894
SOBP_HUMAN RecName: Full=Sine oculis-binding protein homolog; AltName: Full=Jackson circler protein 1
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