Known Diseases associated with this Protein: |  MENTAL RETARDATION, X-LINKED 59
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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 | 300629.0002 | Disease | p.ARG52TER | MENTAL RETARDATION, X-LINKED 59 | | OMIM | 300629.0001 | Disease | p.GLN36TER | MENTAL RETARDATION, X-LINKED 59 | | OMIM | 300629.0005 | Disease | p.GLN66TER | MENTAL RETARDATION, X-LINKED 59 |
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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3023308
AP1S2_HUMAN RecName: Full=AP-1 complex subunit sigma-2; AltName: Full=Adapter-related protein complex 1 subunit sigma-1B; AltName: Full=Adaptor protein complex AP-1 subunit sigma-1B; AltName: Full=Clathrin assembly protein complex 1 sigma-1B small chain; AltName: Full=Golgi adaptor HA1/AP1 adaptin sigma-1B subunit; AltName: Full=Sigma 1B subunit of AP-1 clathrin; AltName: Full=Sigma-adaptin 1B; AltName: Full=Sigma1B-adaptin
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