Reactome | R340Q IVD [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9914798] Rothfels, Karen, 2024-06-27
crossReference	[DatabaseIdentifier:12020918] Mondo:0009475 [DatabaseIdentifier:9914776] ClinGen:CA221927
dbId	9914810
disease	[Disease:9914357] isovaleric acidemia
displayName	R340Q IVD [mitochondrial matrix]
endCoordinate	426
hasModifiedResidue	[ReplacedResidue:9914785] L-arginine 340 replaced with L-glutamine
inDisease	true
literatureReference	[LiteratureReference:9914747] Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
maxDepth	1
memberOf	[CandidateSet:R-HSA-9914827] IVD mutants [mitochondrial matrix] - Homo sapiens
modified	[InstanceEdit:9967511] D'Eustachio, Peter, 2025-09-29
name	R340Q IVD isovaleryl-CoA dehydrogenase, apoenzyme IVD_HUMAN Isovaleryl-CoA dehydrogenase, mitochondrial precursor
referenceEntity	[ReferenceGeneProduct:uniprot:P26440] UniProt:P26440 IVD
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9914810
startCoordinate	33
updateTrackers	[UpdateTracker:9972626] Update Tracker - [EntityWithAccessionedSequence:9914810] R340Q IVD [mitochondrial matrix] - v95:[modifyEndCoordinate, modifyStartCoordinate]

(updatedInstance)	[UpdateTracker:9972626] Update Tracker - [EntityWithAccessionedSequence:9914810] R340Q IVD [mitochondrial matrix] - v95:[modifyEndCoordinate, modifyStartCoordinate]
(hasMember)	[CandidateSet:R-HSA-9914827] IVD mutants [mitochondrial matrix]

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