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Known Diseases associated with this Protein: |  ARTHROGRYPOSIS, DISTAL, TYPE 5
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs2865121 | Polymorphism | p.ARG1611GLN | N/A | | dbSNP | rs79992793 | Polymorphism | p.ARG2064THR | N/A | | dbSNP | rs35033671 | Polymorphism | p.CYS1148PHE | N/A | | dbSNP | rs4796901 | Polymorphism | p.GLU1898GLN | N/A | | dbSNP | rs7234309 | Polymorphism | p.VAL1354ILE | N/A | | dbSNP | rs3748428 | Polymorphism | p.VAL2463ILE | N/A | | OMIM | 613629.0001 | Disease | p.ILE802PHE | ARTHROGRYPOSIS, DISTAL, TYPE 5 |
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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317373264
PIEZ2_HUMAN RecName: Full=Piezo-type mechanosensitive ion channel component 2; AltName: Full=Protein FAM38B
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