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Known Diseases associated with this Protein: | JUVENILE POLYPOSIS SYNDROME
| JUVENILE POLYPOSIS SYNDROME (JPS)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_015534 | Disease | p.ALA338ASP | Juvenile polyposis syndrome (JPS) | Swiss-Prot | VAR_022831 | Disease | p.ARG443CYS | Juvenile polyposis syndrome (JPS) | Swiss-Prot | VAR_041400 | Polymorphism | p.ARG486GLN | N/A | Swiss-Prot | VAR_015533 | Disease | p.CYS124ARG | Juvenile polyposis syndrome (JPS) | Swiss-Prot | VAR_022830 | Disease | p.CYS130ARG | Juvenile polyposis syndrome (JPS) | Swiss-Prot | VAR_015535 | Disease | p.CYS376TYR | Juvenile polyposis syndrome (JPS) | Swiss-Prot | VAR_022829 | Disease | p.CYS82TYR | Juvenile polyposis syndrome (JPS) | Swiss-Prot | VAR_022832 | Disease | p.MET470THR | Juvenile polyposis syndrome (JPS) | Swiss-Prot | VAR_041398 | Polymorphism | p.PHE58TYR | N/A | dbSNP | rs11528010 | Polymorphism | p.PRO2THR | N/A | Swiss-Prot | VAR_022828 | Disease | p.TYR62ASP | Juvenile polyposis syndrome (JPS) | Swiss-Prot | VAR_041399 | Polymorphism | p.VAL450MET | N/A | OMIM | 601299.0005 | Disease | p.ALA338ASP | JUVENILE POLYPOSIS SYNDROME | OMIM | 601299.0006 | Disease | p.CYS124ARG | JUVENILE POLYPOSIS SYNDROME | OMIM | 601299.0007 | Disease | p.CYS376TYR | JUVENILE POLYPOSIS SYNDROME | OMIM | 601299.0002 | Disease | p.GLN239TER | JUVENILE POLYPOSIS SYNDROME | OMIM | 601299.0008 | Disease | p.MET470THR | JUVENILE POLYPOSIS SYNDROME | OMIM | 601299.0003 | Disease | p.TRP271TER | JUVENILE POLYPOSIS SYNDROME |
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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