Reactome | R331* 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:9914315] ClinGen:PA128921
dbId	9914314
disease	[Disease:9914268] 3-methylglutaconic aciduria
displayName	R331* AUH [mitochondrial matrix]
endCoordinate	330
hasModifiedResidue	[NonsenseMutation:9914313] Nonsense mutation at L-lysine 331
inDisease	true
literatureReference	[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
modified	[InstanceEdit:9967561] D'Eustachio, Peter, 2025-09-30
name	R331* 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-9914314
startCoordinate	68
updateTrackers	[UpdateTracker:9971962] Update Tracker - [EntityWithAccessionedSequence:9914314] R331* AUH [mitochondrial matrix] - v95:[modifyEndCoordinate]

(updatedInstance)	[UpdateTracker:9971962] Update Tracker - [EntityWithAccessionedSequence:9914314] R331* AUH [mitochondrial matrix] - v95:[modifyEndCoordinate]
(hasMember)	[DefinedSet:R-HSA-9914265] AUH mutants [mitochondrial matrix]

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