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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 | 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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| Swiss-Prot | VAR_018795 | Disease | p.ALA212VAL | Ataxia-oculomotor apraxia syndrome (AOA) | | Swiss-Prot | VAR_018796 | Disease | p.ARG213HIS | Ataxia-oculomotor apraxia syndrome (AOA) | | Swiss-Prot | VAR_018800 | Disease | p.ASP281GLY | Ataxia-oculomotor apraxia syndrome (AOA) | | Swiss-Prot | VAR_018797 | Disease | p.HIS215ARG | Ataxia-oculomotor apraxia syndrome (AOA) | | Swiss-Prot | VAR_025365 | Disease | p.LEU237PRO | Ataxia-oculomotor apraxia syndrome (AOA) | | Swiss-Prot | VAR_018794 | Disease | p.LYS211GLN | Ataxia-oculomotor apraxia syndrome (AOA) | | Swiss-Prot | VAR_018798 | Disease | p.PRO220LEU | Ataxia-oculomotor apraxia syndrome (AOA) | | Swiss-Prot | VAR_018801 | Disease | p.TRP293ARG | Ataxia-oculomotor apraxia syndrome (AOA) | | Swiss-Prot | VAR_018799 | Disease | p.VAL277GLY | Ataxia-oculomotor apraxia syndrome (AOA) | | OMIM | 606350.0005 | Disease | p.HIS27ARG | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | | OMIM | 606350.0009 | Disease | p.LEU223PRO | ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA | | OMIM | 606350.0002 | Disease | p.PRO32LEU | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | | OMIM | 606350.0006 | Disease | p.TRP279TER | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | | OMIM | 606350.0004 | Disease | p.VAL89GLY | 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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48428038
APTX_HUMAN RecName: Full=Aprataxin; AltName: Full=Forkhead-associated domain histidine triad-like protein; Short=FHA-HIT
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