Reactome | G217D AUH [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9914318] Rothfels, Karen, 2024-06-23
crossReference	[DatabaseIdentifier:12020919] Mondo:0017359 [DatabaseIdentifier:9914320] ClinGen:CA128916
dbId	9914312
disease	[Disease:9914268] 3-methylglutaconic aciduria
displayName	G217D AUH [mitochondrial matrix]
endCoordinate	339
hasModifiedResidue	[ReplacedResidue:9914319] glycine 217 replaced with L-aspartic acid
inDisease	true
literatureReference	[LiteratureReference:9914306] NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism [LiteratureReference:9914286] 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy
maxDepth	1
memberOf	[DefinedSet:R-HSA-9914265] AUH mutants [mitochondrial matrix] - Homo sapiens
name	G217D AUH methylglutaconyl-CoA hydratase AU RNA binding protein
referenceEntity	[ReferenceGeneProduct:uniprot:Q13825] UniProt:Q13825 AUH
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9914312
startCoordinate	68

(hasMember)

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