Known Diseases associated with this Protein: |  GABA TRANSAMINASE DEFICIENCY (GABATD)
| GABA-TRANSAMINASE DEFICIENCY
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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_008883 | Disease | p.ARG220LYS | GABA transaminase deficiency (GABATD) | | dbSNP | rs1731017 | Polymorphism | p.GLN56ARG | N/A | | OMIM | 137150.0001 | Disease | p.ARG220LYS | GABA-TRANSAMINASE 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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48429239
GABT_HUMAN RecName: Full=4-aminobutyrate aminotransferase, mitochondrial; AltName: Full=(S)-3-amino-2-methylpropionate transaminase; AltName: Full=GABA aminotransferase; Short=GABA-AT; AltName: Full=Gamma-amino-N-butyrate transaminase; Short=GABA transaminase; Short=GABA-T; AltName: Full=L-AIBAT; Flags: Precursor
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