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Known Diseases associated with this Protein: |  ASPHYXIATING THORACIC DYSTROPHY 2
| ASPHYXIATING THORACIC DYSTROPHY 2 (ATD2)
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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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| Swiss-Prot | VAR_035009 | Disease | p.ALA701PRO | Asphyxiating thoracic dystrophy 2 (ATD2) | | Swiss-Prot | VAR_035006 | Disease | p.HIS105GLN | Asphyxiating thoracic dystrophy 2 (ATD2) | | Swiss-Prot | VAR_035008 | Polymorphism | p.THR586SER | N/A | | OMIM | 611177.0003 | Disease | p.ALA701PRO | ASPHYXIATING THORACIC DYSTROPHY 2 | | OMIM | 611177.0001 | Disease | p.HIS105GLN | ASPHYXIATING THORACIC DYSTROPHY 2 |
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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294862504
IFT80_HUMAN RecName: Full=Intraflagellar transport protein 80 homolog; AltName: Full=WD repeat-containing protein 56
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