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Known Diseases associated with this Protein: |  ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA
| ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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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 | 606350.0005 | Disease | p.HIS13ARG | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | | OMIM | 606350.0009 | Disease | p.LEU209PRO | ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA | | OMIM | 606350.0002 | Disease | p.PRO18LEU | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | | OMIM | 606350.0006 | Disease | p.TRP265TER | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | | OMIM | 606350.0004 | Disease | p.VAL75GLY | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA |
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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28329436
aprataxin isoform a [Homo sapiens]
5
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5
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