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Known Diseases associated with this Protein: |  CHOREA, HEREDITARY BENIGN (BHC)
| CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS (CHNRD)
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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_015189 | Disease | p.ARG213SER | Chorea, hereditary benign (BHC) | | Swiss-Prot | VAR_015188 | Disease | p.TRP208LEU | Chorea, hereditary benign (BHC) | | Swiss-Prot | VAR_034906 | Disease | p.VAL205PHE | Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) |
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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1174819
NKX21_HUMAN RecName: Full=Homeobox protein Nkx-2.1; AltName: Full=Homeobox protein NK-2 homolog A; AltName: Full=Thyroid nuclear factor 1; AltName: Full=Thyroid transcription factor 1; Short=TTF-1
3
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