Query author contributions in Reactome

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Details on Person A238V ECHS1 [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9916686
_displayName	A238V ECHS1 [mitochondrial matrix]
_timestamp	2024-07-25 19:37:51
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9916660] Rothfels, Karen, 2024-07-25
crossReference	[DatabaseIdentifier:9916673] ClinGen:CA5765678
disease	[Disease:9916658] mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
endCoordinate	290
hasModifiedResidue	[ReplacedResidue:9916645] L-alanine 238 replaced with L-valine
literatureReference	[LiteratureReference:9916626] Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
name	A238V ECHS1 Enoyl-CoA hydratase, mitochondrial precursor Short chain enoyl-CoA hydratase Enoyl-CoA hydratase 1
referenceEntity	[ReferenceGeneProduct:54126] UniProt:P30084 ECHS1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9916700] R-HSA-9916686.1
startCoordinate	28
(hasCandidate)	[CandidateSet:9916709] ECHS1 mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by A238V ECHS1 [mitochondrial matrix] (9916686)