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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_012106 | Disease | p.ARG110GLN | Chondrodysplasia punctata 2, X-linked dominant (CDPX2) | | Swiss-Prot | VAR_012107 | Disease | p.ARG147GLY | Chondrodysplasia punctata 2, X-linked dominant (CDPX2) | | Swiss-Prot | VAR_012108 | Disease | p.ARG147HIS | Chondrodysplasia punctata 2, X-linked dominant (CDPX2) | | Swiss-Prot | VAR_012105 | Disease | p.GLU80LYS | Chondrodysplasia punctata 2, X-linked dominant (CDPX2) | | OMIM | 300205.0012 | Disease | p.ARG147HIS | CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT | | OMIM | 300205.0002 | Disease | p.ARG63TER | CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT | | OMIM | 300205.0010 | Disease | p.GLN175TER | CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT | | OMIM | 300205.0003 | Disease | p.GLU80LYS | CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT | | OMIM | 300205.0013 | Disease | p.LEU18PRO | CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL | | OMIM | 300205.0009 | Disease | p.TRP129TER | CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT | | OMIM | 300205.0011 | Disease | p.TRP196TER | CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT | | OMIM | 300205.0001 | Disease | p.TRP29TER | CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT |
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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17374795
EBP_HUMAN RecName: Full=3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; AltName: Full=Cholestenol Delta-isomerase; AltName: Full=Delta(8)-Delta(7) sterol isomerase; Short=D8-D7 sterol isomerase; AltName: Full=Emopamil-binding protein
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