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Known Diseases associated with this Protein: |  OSTEOGENESIS IMPERFECTA, TYPE VIII
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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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| P4Hc | smart00702 | 1.2e-59 | 469 | 677 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs55716016 | Polymorphism | p.ALA47SER | N/A | | Swiss-Prot | VAR_050442 | Polymorphism | p.GLN644LYS | N/A | | dbSNP | rs6700677 | Polymorphism | p.GLY349ARG | N/A | | dbSNP | rs61747423 | Polymorphism | p.LEU524VAL | N/A | | dbSNP | rs11581921 | Polymorphism | p.MET549ILE | N/A | | Swiss-Prot | VAR_033253 | Polymorphism | p.PRO506ARG | N/A | | OMIM | 610339.0006 | Disease | p.ARG368TER | OSTEOGENESIS IMPERFECTA, TYPE VIII | | OMIM | 610339.0004 | Disease | p.TYR552TER | OSTEOGENESIS IMPERFECTA, TYPE VIII |
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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109892809
P3H1_HUMAN RecName: Full=Prolyl 3-hydroxylase 1; AltName: Full=Growth suppressor 1; AltName: Full=Leucine- and proline-enriched proteoglycan 1; Short=Leprecan-1; Flags: Precursor
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