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Details on Person L437P Btn-MCCC1 [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9908666
_displayName	L437P Btn-MCCC1 [mitochondrial matrix]
_timestamp	2024-05-13 23:56:02
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9908667] Rothfels, Karen, 2024-04-22
crossReference	[DatabaseIdentifier:9909452] ClinGen:CA251977
disease	[Disease:9908651] 3-Methylcrotonyl-CoA carboxylase 1 deficiency
endCoordinate	725
hasModifiedResidue	[ModifiedResidue:508303] N6-biotinyl-L-lysine at 681 [ReplacedResidue:9908663] L-leucine 437 replaced with L-proline
literatureReference	[LiteratureReference:70761] The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
modified	[InstanceEdit:9909483] Rothfels, Karen, 2024-05-13
name	L437P Btn-MCCC1 methylcrotonyl-CoA carboxylase alpha chain
referenceEntity	[ReferenceGeneProduct:59057] UniProt:Q96RQ3 MCCC1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9908668] R-HSA-9908666.1
startCoordinate	42
(hasMember)	[DefinedSet:9914215] Btn-MCCC1 mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by L437P Btn-MCCC1 [mitochondrial matrix] (9908666)