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Known Diseases associated with this Protein: |  CEREBRAL CREATINE DEFICIENCY SYNDROME 1
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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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| SNF | pfam00209 | | 52 | 573 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 300036.0001 | Disease | p.ARG504TER | CEREBRAL CREATINE DEFICIENCY SYNDROME 1 | | OMIM | 300036.0007 | Disease | p.CYS337TRP | CEREBRAL CREATINE DEFICIENCY SYNDROME 1 | | OMIM | 300036.0009 | Disease | p.CYS481TRP | CEREBRAL CREATINE DEFICIENCY SYNDROME 1 | | OMIM | 300036.0002 | Disease | p.GLY371ARG | CEREBRAL CREATINE DEFICIENCY SYNDROME 1 | | OMIM | 300036.0005 | Disease | p.GLY87ARG | CEREBRAL CREATINE DEFICIENCY SYNDROME 1 | | OMIM | 300036.0008 | Disease | p.GLY132VAL | CEREBRAL CREATINE DEFICIENCY SYNDROME 1 |
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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218563756
sodium- and chloride-dependent creatine transporter 1 isoform 2 [Homo sapiens]
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