Known Diseases associated with this Protein: |  FRIEDREICH ATAXIA
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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 | 606829.0005 | Disease | p.GLY130VAL | FRIEDREICH ATAXIA | | OMIM | 606829.0004 | Disease | p.ILE154PHE | FRIEDREICH ATAXIA | | OMIM | 606829.0002 | Disease | p.LEU106TER | FRIEDREICH ATAXIA | | OMIM | 606829.0006 | Disease | p.MET1ILE | FRIEDREICH ATAXIA |
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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239787198
frataxin, mitochondrial isoform 3 preproprotein [Homo sapiens]
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