Reactome | L437P Btn-MCCC1 [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9908667] Rothfels, Karen, 2024-04-22
crossReference	[DatabaseIdentifier:12020924] Mondo:0008861 [DatabaseIdentifier:9909452] ClinGen:CA251977
dbId	9908666
disease	[Disease:9908651] 3-Methylcrotonyl-CoA carboxylase 1 deficiency
displayName	L437P Btn-MCCC1 [mitochondrial matrix]
endCoordinate	725
hasModifiedResidue	[ModifiedResidue:508303] N6-biotinyl-L-lysine at 681 [ReplacedResidue:9908663] L-leucine 437 replaced with L-proline
inDisease	true
literatureReference	[LiteratureReference:70761] The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
maxDepth	1
memberOf	[DefinedSet:R-HSA-9914215] Btn-MCCC1 mutants [mitochondrial matrix] - Homo sapiens
modified	[InstanceEdit:9909483] Rothfels, Karen, 2024-05-13
name	L437P Btn-MCCC1 methylcrotonyl-CoA carboxylase alpha chain
referenceEntity	[ReferenceGeneProduct:uniprot:Q96RQ3] UniProt:Q96RQ3 MCCC1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9908666
startCoordinate	42

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