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Known Diseases associated with this Protein: | PSEUDOHYPOALDOSTERONISM 2B (PHA2B)
| PSEUDOHYPOALDOSTERONISM, TYPE IIB
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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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dbSNP | rs61754326 | Polymorphism | p.ALA80ASP | N/A | dbSNP | rs55781437 | Polymorphism | p.ALA601SER | N/A | Swiss-Prot | VAR_017591 | Disease | p.ARG1185CYS | Pseudohypoaldosteronism 2B (PHA2B) | dbSNP | rs9896991 | Polymorphism | p.ARG677TRP | N/A | Swiss-Prot | VAR_017589 | Disease | p.ASP564ALA | Pseudohypoaldosteronism 2B (PHA2B) | Swiss-Prot | VAR_017590 | Disease | p.GLN565GLU | Pseudohypoaldosteronism 2B (PHA2B) | Swiss-Prot | VAR_041330 | Polymorphism | p.GLU434ASP | N/A | Swiss-Prot | VAR_017588 | Disease | p.GLU562LYS | Pseudohypoaldosteronism 2B (PHA2B) | Swiss-Prot | VAR_041333 | Polymorphism | p.LEU1013PRO | N/A | dbSNP | rs57737815 | Polymorphism | p.PRO555ARG | N/A | Swiss-Prot | VAR_041331 | Polymorphism | p.PRO813LEU | N/A | dbSNP | rs56226218 | Polymorphism | p.PRO825LEU | N/A | dbSNP | rs2290041 | Polymorphism | p.PRO961SER | N/A | Swiss-Prot | VAR_041332 | Polymorphism | p.PRO992SER | N/A | OMIM | 601844.0004 | Disease | p.ARG1185CYS | PSEUDOHYPOALDOSTERONISM, TYPE IIB | OMIM | 601844.0003 | Disease | p.ASP564ALA | PSEUDOHYPOALDOSTERONISM, TYPE IIB | OMIM | 601844.0001 | Disease | p.GLN565GLU | PSEUDOHYPOALDOSTERONISM, TYPE IIB | OMIM | 601844.0002 | Disease | p.GLU562LYS | PSEUDOHYPOALDOSTERONISM, TYPE IIB |
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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