Known Diseases associated with this Protein: |  SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
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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 | 607243.0001 | Disease | p.ARG42TER | SPASTIC PARAPLEGIA 52, 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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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13431288
AP4S1_HUMAN RecName: Full=AP-4 complex subunit sigma-1; AltName: Full=AP-4 adapter complex subunit sigma-1; AltName: Full=Adapter-related protein complex 4 subunit sigma-1; AltName: Full=Sigma-1 subunit of AP-4; AltName: Full=Sigma-4-adaptin; Short=Sigma4-adaptin
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