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Known Diseases associated with this Protein: |  MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY (MCT8 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 | 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_022348 | Disease | p.ALA150VAL | Monocarboxylate transporter 8 deficiency (MCT8 deficiency) | | Swiss-Prot | VAR_059059 | Disease | p.GLY490ARG | Monocarboxylate transporter 8 deficiency (MCT8 deficiency) | | Swiss-Prot | VAR_057723 | Polymorphism | p.ILE323LEU | N/A | | Swiss-Prot | VAR_022349 | Disease | p.LEU397PRO | Monocarboxylate transporter 8 deficiency (MCT8 deficiency) | | Swiss-Prot | VAR_022350 | Disease | p.LEU438PRO | Monocarboxylate transporter 8 deficiency (MCT8 deficiency) | | Swiss-Prot | VAR_059060 | Disease | p.LEU494PRO | Monocarboxylate transporter 8 deficiency (MCT8 deficiency) | | Swiss-Prot | VAR_059057 | Disease | p.LEU360TRP | Monocarboxylate transporter 8 deficiency (MCT8 deficiency) | | Swiss-Prot | VAR_059054 | Disease | p.SER120PHE | Monocarboxylate transporter 8 deficiency (MCT8 deficiency) | | Swiss-Prot | VAR_059056 | Disease | p.VAL161MET | Monocarboxylate transporter 8 deficiency (MCT8 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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114152841
MOT8_HUMAN RecName: Full=Monocarboxylate transporter 8; Short=MCT 8; AltName: Full=Monocarboxylate transporter 7; Short=MCT 7; AltName: Full=Solute carrier family 16 member 2; AltName: Full=X-linked PEST-containing transporter
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