Known Diseases associated with this Protein: |  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
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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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| OMIM | 300526.0002 | Disease | p.ARG233TER | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | | OMIM | 300526.0005 | Disease | p.GLN212TER | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 |
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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74762056
WIPI4_HUMAN RecName: Full=WD repeat domain phosphoinositide-interacting protein 4; Short=WIPI-4; AltName: Full=WD repeat-containing protein 45
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