Known Diseases associated with this Protein: |  GLOBAL CEREBRAL HYPOMYELINATION (GCHM)
| HYPOMYELINATION, GLOBAL CEREBRAL
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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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| dbSNP | rs35565687 | Polymorphism | p.ARG473GLN | N/A | | Swiss-Prot | VAR_063253 | Disease | p.GLN590ARG | Global cerebral hypomyelination (GCHM) | | OMIM | 603667.0001 | Disease | p.GLN590ARG | HYPOMYELINATION, GLOBAL CEREBRAL |
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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206729858
CMC1_HUMAN RecName: Full=Calcium-binding mitochondrial carrier protein Aralar1; AltName: Full=Mitochondrial aspartate glutamate carrier 1; AltName: Full=Solute carrier family 25 member 12
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