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Known Diseases associated with this Protein: |  RICKETS VITAMIN D-DEPENDENT 1B (VDDR1B)
| VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
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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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| p450 | pfam00067 | 4e-149 | 40 | 498 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_021534 | Disease | p.LEU99PRO | Rickets vitamin D-dependent 1B (VDDR1B) | | OMIM | 608713.0001 | Disease | p.LEU99PRO | VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B |
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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62286619
CP2R1_HUMAN RecName: Full=Vitamin D 25-hydroxylase; AltName: Full=Cytochrome P450 2R1
2
0
1
0
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