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Known Diseases associated with this Protein: | CURRARINO SYNDROME
| CURRARINO SYNDROME (CURRAS)
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_017881 | Disease | p.ARG293GLN | Currarino syndrome (CURRAS) | Swiss-Prot | VAR_017874 | Disease | p.ARG245GLY | Currarino syndrome (CURRAS) | Swiss-Prot | VAR_017875 | Disease | p.ARG245HIS | Currarino syndrome (CURRAS) | Swiss-Prot | VAR_068473 | Disease | p.ARG243TRP | Currarino syndrome (CURRAS) | Swiss-Prot | VAR_017880 | Disease | p.ARG292TRP | Currarino syndrome (CURRAS) | Swiss-Prot | VAR_017882 | Disease | p.ARG293TRP | Currarino syndrome (CURRAS) | Swiss-Prot | VAR_017879 | Disease | p.GLN290PRO | Currarino syndrome (CURRAS) | Swiss-Prot | VAR_068474 | Disease | p.PHE289SER | Currarino syndrome (CURRAS) | Swiss-Prot | VAR_017876 | Disease | p.THR246SER | Currarino syndrome (CURRAS) | Swiss-Prot | VAR_017877 | Disease | p.TRP288GLY | Currarino syndrome (CURRAS) | Swiss-Prot | VAR_017878 | Disease | p.TRP288LEU | Currarino syndrome (CURRAS) | OMIM | 142994.0002 | Disease | p.GLU261TER | CURRARINO SYNDROME | OMIM | 142994.0010 | Disease | p.GLU283TER | CURRARINO SYNDROME | OMIM | 142994.0008 | Disease | p.THR248SER | CURRARINO SYNDROME | OMIM | 142994.0004 | Disease | p.TYR166TER | CURRARINO SYNDROME |
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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