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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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HOLI | smart00430 | 4.5e-36 | 773 | 934 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs5526 | Polymorphism | p.ARG537GLN | N/A | dbSNP | rs5527 | Polymorphism | p.ASN554SER | N/A | dbSNP | rs5523 | Polymorphism | p.ASN444THR | N/A | dbSNP | rs5522 | Polymorphism | p.VAL180ILE | N/A | OMIM | 600983.0003 | Disease | p.ARG537TER | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT | OMIM | 600983.0015 | Disease | p.ARG947TER | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT | OMIM | 600983.0010 | Disease | p.CYS645TER | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT | OMIM | 600983.0011 | Disease | p.GLN776ARG | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT | OMIM | 600983.0012 | Disease | p.GLY633ARG | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT | OMIM | 600983.0007 | Disease | p.LEU924PRO | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT | OMIM | 600983.0013 | Disease | p.LEU979PRO | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT | OMIM | 600983.0005 | Disease | p.SER810LEU | HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN||PREGNANCY | OMIM | 600983.0014 | Disease | p.SER163TER | PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT |
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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