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Known Diseases associated with this Protein: |  PYCNODYSOSTOSIS
| PYCNODYSOSTOSIS (PKND)
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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_015739 | Disease | p.ALA277VAL | Pycnodysostosis (PKND) | | Swiss-Prot | VAR_006725 | Disease | p.GLY146ARG | Pycnodysostosis (PKND) | | Swiss-Prot | VAR_015738 | Disease | p.GLY79GLU | Pycnodysostosis (PKND) | | Swiss-Prot | VAR_006726 | Disease | p.LEU309PRO | Pycnodysostosis (PKND) | | OMIM | 601105.0004 | Disease | p.ALA277VAL | PYCNODYSOSTOSIS | | OMIM | 601105.0003 | Disease | p.ARG241TER | PYCNODYSOSTOSIS | | OMIM | 601105.0002 | Disease | p.GLY146ARG | PYCNODYSOSTOSIS | | OMIM | 601105.0005 | Disease | p.GLY79GLU | PYCNODYSOSTOSIS | | OMIM | 601105.0007 | Disease | p.LEU309PRO | PYCNODYSOSTOSIS | | OMIM | 601105.0006 | Disease | p.LYS52TER | PYCNODYSOSTOSIS | | OMIM | 601105.0001 | Disease | p.TER330TRP | PYCNODYSOSTOSIS |
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 |
|
1168793
CATK_HUMAN RecName: Full=Cathepsin K; AltName: Full=Cathepsin O; AltName: Full=Cathepsin O2; AltName: Full=Cathepsin X; Flags: Precursor
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