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Known Diseases associated with this Protein: | EARLY-ONSET HYPERTENSION WITH SEVERE EXACERBATION IN PREGNANCY (EOHSEP)
| PSEUDOHYPOALDOSTERONISM 1, AUTOSOMAL DOMINANT (PHA1A)
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_015625 | Polymorphism | p.ALA241VAL | N/A | Swiss-Prot | VAR_014625 | Polymorphism | p.ARG537GLN | N/A | Swiss-Prot | VAR_031270 | Disease | p.ARG659SER | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | Swiss-Prot | VAR_031273 | Disease | p.ASN770LYS | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | Swiss-Prot | VAR_014626 | Polymorphism | p.ASN554SER | N/A | Swiss-Prot | VAR_014624 | Polymorphism | p.ASN444THR | N/A | Swiss-Prot | VAR_031269 | Disease | p.CYS645SER | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | Swiss-Prot | VAR_031274 | Disease | p.GLN776ARG | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | Swiss-Prot | VAR_031278 | Disease | p.GLU972GLY | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | Swiss-Prot | VAR_031268 | Disease | p.GLY633ARG | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | Swiss-Prot | VAR_036063 | Polymorphism | p.HIS7GLN | N/A | Swiss-Prot | VAR_014623 | Polymorphism | p.ILE180VAL | N/A | Swiss-Prot | VAR_031272 | Disease | p.LEU769PRO | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | Swiss-Prot | VAR_015627 | Disease | p.LEU924PRO | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | Swiss-Prot | VAR_031279 | Disease | p.LEU979PRO | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | Swiss-Prot | VAR_029311 | Polymorphism | p.PHE826TYR | N/A | Swiss-Prot | VAR_031271 | Disease | p.PRO759SER | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | Swiss-Prot | VAR_031276 | Disease | p.SER815ARG | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | Swiss-Prot | VAR_015626 | Disease | p.SER810LEU | Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) | Swiss-Prot | VAR_031277 | Disease | p.SER818LEU | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | Swiss-Prot | VAR_031275 | Disease | p.SER805PRO | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) |
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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