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Results for the Protein: P80404
48429239
18

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

Known Diseases associated with this Protein:
  GABA TRANSAMINASE DEFICIENCY (GABATD)
  GABA-TRANSAMINASE DEFICIENCY
2
1
1
1
1
Tips:
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Default View:

GabT - COG0160
ArgD - COG4992
BioA - COG0161
OAT_like - cd00610
Aminotran_3 - pfam00202
AAT_I - cd01494


Swiss-Prot Protein: P80404
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GabTCOG01601.3e-8341500
BioACOG01613e-1461500
OAT_likecd006101.6e-12264496
AAT_Icd014941.1e-77139367
ArgDCOG49921.3e-1556500
Aminotran_3pfam002023.5e-18976446

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_008883Diseasep.ARG220LYSGABA transaminase deficiency (GABATD)
dbSNPrs1731017 Polymorphismp.GLN56ARGN/A
OMIM137150.0001 Diseasep.ARG220LYSGABA-TRANSAMINASE DEFICIENCY



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