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Details on Person S173L MCCC2 [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9909439
_displayName	S173L MCCC2 [mitochondrial matrix]
_timestamp	2024-06-21 19:19:35
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9909458] Rothfels, Karen, 2024-05-13
crossReference	[DatabaseIdentifier:9909456] ClinGen:CA312686
disease	[Disease:9909434] 3-methylcrotonyl-CoA carboxylase deficiency [Disease:9909468] 3-Methylcrotonyl-CoA carboxylase 2 deficiency
endCoordinate	563
hasModifiedResidue	[ReplacedResidue:9909460] L-serine 173 replaced with L-leucine
literatureReference	[LiteratureReference:70761] The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
modified	[InstanceEdit:9914207] Rothfels, Karen, 2024-06-21
name	S173L MCCC2 methylcrotonyl-CoA carboxylase beta chain
referenceEntity	[ReferenceGeneProduct:59059] UniProt:Q9HCC0 MCCC2 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9909481] R-HSA-9909439.1
startCoordinate	23
(hasMember)	[DefinedSet:9914221] MCCC2 mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by S173L MCCC2 [mitochondrial matrix] (9909439)