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Known Diseases associated with this Protein: |  BRUCK SYNDROME 2
| BRUCK SYNDROME 2 (BRKS2)
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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 | 1.3e-23 | 563 | 736 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_022164 | Disease | p.ARG598HIS | Bruck syndrome 2 (BRKS2) | | Swiss-Prot | VAR_069531 | Polymorphism | p.GLY601CYS | N/A | | Swiss-Prot | VAR_022165 | Disease | p.GLY601VAL | Bruck syndrome 2 (BRKS2) | | Swiss-Prot | VAR_022166 | Disease | p.THR608ILE | Bruck syndrome 2 (BRKS2) | | OMIM | 601865.0003 | Disease | p.ARG577HIS | BRUCK SYNDROME 2 | | OMIM | 601865.0002 | Disease | p.GLY580VAL | BRUCK SYNDROME 2 | | OMIM | 601865.0001 | Disease | p.THR587ILE | BRUCK SYNDROME 2 |
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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62906878
PLOD2_HUMAN RecName: Full=Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2; AltName: Full=Lysyl hydroxylase 2; Short=LH2; Flags: Precursor
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