Reactome | H190Y MCCC2 [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9909458] Rothfels, Karen, 2024-05-13
crossReference	[DatabaseIdentifier:12020926] Mondo:0008862 [DatabaseIdentifier:9909445] ClinGen:CA275357
dbId	9909469
disease	[Disease:9909434] 3-methylcrotonyl-CoA carboxylase deficiency [Disease:9909468] 3-Methylcrotonyl-CoA carboxylase 2 deficiency
displayName	H190Y MCCC2 [mitochondrial matrix]
endCoordinate	563
hasModifiedResidue	[ReplacedResidue:9909446] L-histidine 190 replaced with L-tyrosine
inDisease	true
literatureReference	[LiteratureReference:9908587] 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening [LiteratureReference:9908592] 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals
maxDepth	1
memberOf	[DefinedSet:R-HSA-9914221] MCCC2 mutants [mitochondrial matrix] - Homo sapiens
modified	[InstanceEdit:9914207] Rothfels, Karen, 2024-06-21
name	H190Y MCCC2 methylcrotonyl-CoA carboxylase beta chain
referenceEntity	[ReferenceGeneProduct:uniprot:Q9HCC0] UniProt:Q9HCC0 MCCC2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9909469
startCoordinate	23

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