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Query author contributions in Reactome

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Details on Person A314V IVD [mitochondrial matrix]

Class:IdEntityWithAccessionedSequence:9914801
_displayNameA314V IVD [mitochondrial matrix]
_timestamp2025-09-29 21:43:14
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9914798] Rothfels, Karen, 2024-06-27
crossReference[DatabaseIdentifier:9914768] ClinGen:CA252819
disease[Disease:9914357] isovaleric acidemia
endCoordinate426
hasModifiedResidue[ReplacedResidue:9914791] L-alanine 314 replaced with L-valine removal
literatureReference[LiteratureReference:9914727] Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia
modified[InstanceEdit:9967511] D'Eustachio, Peter, 2025-09-29
nameA314V IVD
isovaleryl-CoA dehydrogenase, apoenzyme
IVD_HUMAN
Isovaleryl-CoA dehydrogenase, mitochondrial precursor
referenceEntity[ReferenceGeneProduct:57639] UniProt:P26440 IVD [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9914812] R-HSA-9914801.2
startCoordinate33
(hasMember)[CandidateSet:9914827] IVD mutants [mitochondrial matrix] [Homo sapiens]
(updatedInstance)[_UpdateTracker:9972555] Update Tracker - [EntityWithAccessionedSequence:9914801] A314V IVD [mitochondrial matrix] - v95:[modifyEndCoordinate, modifyStartCoordinate]
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No pathways have been reviewed or authored by A314V IVD [mitochondrial matrix] (9914801)
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