Reactome | G195S ECHS1 [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9916709] ECHS1 mutants [mitochondrial matrix] - Homo sapiens
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9916660] Rothfels, Karen, 2024-07-25
crossReference	[DatabaseIdentifier:12020923] Mondo:0014563 [DatabaseIdentifier:9916669] ClinGen:CA2573145603 [DatabaseIdentifier:9916663] ClinGen:CA5765722
dbId	9916681
disease	[Disease:9916658] mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
displayName	G195S ECHS1 [mitochondrial matrix]
endCoordinate	290
hasModifiedResidue	[ReplacedResidue:9916649] glycine 195 replaced with L-serine
inDisease	true
literatureReference	[LiteratureReference:9916618] Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement [LiteratureReference:9916626] Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
maxDepth	1
name	G195S ECHS1 Enoyl-CoA hydratase, mitochondrial precursor Short chain enoyl-CoA hydratase Enoyl-CoA hydratase 1
referenceEntity	[ReferenceGeneProduct:uniprot:P30084] UniProt:P30084 ECHS1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9916681
startCoordinate	28

(hasCandidate)

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