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Known Diseases associated with this Protein: |  BRACHYDACTYLY E2 (BDE2)
| BRACHYDACTYLY, TYPE E2
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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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| Swiss-Prot | VAR_063711 | Disease | p.LEU44PRO | Brachydactyly E2 (BDE2) | | Swiss-Prot | VAR_063712 | Disease | p.LEU60PRO | Brachydactyly E2 (BDE2) | | Swiss-Prot | VAR_036433 | Polymorphism | p.SER169THR | N/A | | OMIM | 168470.0002 | Disease | p.LEU44PRO | BRACHYDACTYLY, TYPE E2 | | OMIM | 168470.0001 | Disease | p.LEU60PRO | BRACHYDACTYLY, TYPE E2 | | OMIM | 168470.0004 | Disease | p.LYS120TER | BRACHYDACTYLY, TYPE E2 | | OMIM | 168470.0003 | Disease | p.TER178TRP | BRACHYDACTYLY, TYPE E2 |
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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131542
PTHR_HUMAN RecName: Full=Parathyroid hormone-related protein; Short=PTH-rP; Short=PTHrP; AltName: Full=Parathyroid hormone-like protein; Short=PLP; Contains: RecName: Full=PTHrP[1-36]; Contains: RecName: Full=PTHrP[38-94]; Contains: RecName: Full=Osteostatin; AltName: Full=PTHrP[107-139]; Flags: Precursor
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