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Known Diseases associated with this Protein: |  CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
| CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY (CACT DEFICIENCY)
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_021818 | Disease | p.ARG133TRP | Carnitine-acylcarnitine translocase deficiency (CACT deficiency) | | Swiss-Prot | VAR_021819 | Disease | p.ASP231HIS | Carnitine-acylcarnitine translocase deficiency (CACT deficiency) | | Swiss-Prot | VAR_021820 | Disease | p.GLN238ARG | Carnitine-acylcarnitine translocase deficiency (CACT deficiency) | | OMIM | 613698.0004 | Disease | p.ARG166TER | CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY | | OMIM | 613698.0007 | Disease | p.GLN238ARG | CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY |
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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3914023
MCAT_HUMAN RecName: Full=Mitochondrial carnitine/acylcarnitine carrier protein; AltName: Full=Carnitine/acylcarnitine translocase; Short=CAC; AltName: Full=Solute carrier family 25 member 20
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