Known Diseases associated with this Protein: |  SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE
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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 | rs41280968 | Polymorphism | p.ARG271HIS | N/A | | OMIM | 602296.0002 | Disease | p.GLU193LYS | SPASTIC PARAPLEGIA 50, 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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145559442
AP4M1_HUMAN RecName: Full=AP-4 complex subunit mu-1; AltName: Full=AP-4 adapter complex mu subunit; AltName: Full=Adapter-related protein complex 4 subunit mu-1; AltName: Full=Mu subunit of AP-4; AltName: Full=Mu-adaptin-related protein 2; Short=mu-ARP2; AltName: Full=Mu4-adaptin; Short=mu4
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