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Known Diseases associated with this Protein: | CEREBROTENDINOUS XANTHOMATOSIS
| CEREBROTENDINOUS XANTHOMATOSIS (CTX)
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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 | 3.7e-151 | 61 | 526 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_061046 | Polymorphism | p.ALA169VAL | N/A | Swiss-Prot | VAR_001303 | Disease | p.ARG395CYS | Cerebrotendinous xanthomatosis (CTX) | Swiss-Prot | VAR_001304 | Disease | p.ARG479CYS | Cerebrotendinous xanthomatosis (CTX) | Swiss-Prot | VAR_012286 | Disease | p.ARG405GLN | Cerebrotendinous xanthomatosis (CTX) | Swiss-Prot | VAR_012287 | Disease | p.ARG474GLN | Cerebrotendinous xanthomatosis (CTX) | Swiss-Prot | VAR_012285 | Disease | p.ARG395SER | Cerebrotendinous xanthomatosis (CTX) | Swiss-Prot | VAR_012288 | Disease | p.ARG474TRP | Cerebrotendinous xanthomatosis (CTX) | Swiss-Prot | VAR_016966 | Disease | p.GLY145GLU | Cerebrotendinous xanthomatosis (CTX) | Swiss-Prot | VAR_048467 | Polymorphism | p.THR175MET | N/A | OMIM | 606530.0002 | Disease | p.ARG362CYS | CEREBROTENDINOUS XANTHOMATOSIS | OMIM | 606530.0001 | Disease | p.ARG446CYS | CEREBROTENDINOUS XANTHOMATOSIS | OMIM | 606530.0007 | Disease | p.ARG372GLN | CEREBROTENDINOUS XANTHOMATOSIS | OMIM | 606530.0005 | Disease | p.ARG441GLN | CEREBROTENDINOUS XANTHOMATOSIS | OMIM | 606530.0014 | Disease | p.ARG479GLY | CEREBROTENDINOUS XANTHOMATOSIS | OMIM | 606530.0008 | Disease | p.ARG362SER | CEREBROTENDINOUS XANTHOMATOSIS | OMIM | 606530.0006 606530.0010 | Disease | p.ARG441TRP | CEREBROTENDINOUS XANTHOMATOSIS | OMIM | 606530.0011 | Disease | p.GLY112GLU | CEREBROTENDINOUS XANTHOMATOSIS | OMIM | 606530.0013 | Disease | p.THR339MET | CEREBROTENDINOUS XANTHOMATOSIS |
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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