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Known Diseases associated with this Protein: | ACRODYSOSTOSIS 2
| ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE (ACRDYS2)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_069448 | Disease | p.ALA227SER | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) | Swiss-Prot | VAR_069451 | Disease | p.ALA304VAL | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) | Swiss-Prot | VAR_069449 | Disease | p.GLN228GLU | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) | Swiss-Prot | VAR_069453 | Disease | p.GLU590ALA | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) | Swiss-Prot | VAR_069454 | Disease | p.GLY673ASP | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) | Swiss-Prot | VAR_069455 | Disease | p.ILE678THR | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) | Swiss-Prot | VAR_068244 | Disease | p.PHE226SER | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) | Swiss-Prot | VAR_068243 | Disease | p.PRO225THR | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) | Swiss-Prot | VAR_068242 | Disease | p.SER190ALA | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) | Swiss-Prot | VAR_069450 | Disease | p.SER301THR | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) | Swiss-Prot | VAR_068245 | Disease | p.THR587PRO | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) | Swiss-Prot | VAR_069452 | Disease | p.VAL329ALA | Acrodysostosis 2, with or without hormone resistance (ACRDYS2) | OMIM | 600129.0008 | Disease | p.ALA243VAL | ACRODYSOSTOSIS 2 | OMIM | 600129.0005 | Disease | p.GLN228GLU | ACRODYSOSTOSIS 2 | OMIM | 600129.0006 | Disease | p.GLU590ALA | ACRODYSOSTOSIS 2 | OMIM | 600129.0007 | Disease | p.GLY673ASP | ACRODYSOSTOSIS 2 | OMIM | 600129.0002 | Disease | p.PHE226SER | ACRODYSOSTOSIS 2 | OMIM | 600129.0001 | Disease | p.PRO225THR | ACRODYSOSTOSIS 2 | OMIM | 600129.0003 | Disease | p.SER190ALA | ACRODYSOSTOSIS 2 | OMIM | 600129.0004 | Disease | p.THR587PRO | ACRODYSOSTOSIS 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.
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21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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