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Details on Person D532H Btn-MCCC1 [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9908652
_displayName	D532H Btn-MCCC1 [mitochondrial matrix]
_timestamp	2024-05-13 23:55:58
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9908654] Rothfels, Karen, 2024-04-22
crossReference	[DatabaseIdentifier:9909459] ClinGen:CA251976
disease	[Disease:9908651] 3-Methylcrotonyl-CoA carboxylase 1 deficiency
endCoordinate	725
hasModifiedResidue	[ModifiedResidue:508303] N6-biotinyl-L-lysine at 681 [ReplacedResidue:9908653] L-aspartic acid 532 replaced with L-histidine
literatureReference	[LiteratureReference:9908592] 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals [LiteratureReference:70761] The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
modified	[InstanceEdit:9909483] Rothfels, Karen, 2024-05-13
name	D532H Btn-MCCC1 methylcrotonyl-CoA carboxylase alpha chain
referenceEntity	[ReferenceGeneProduct:59057] UniProt:Q96RQ3 MCCC1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9908655] R-HSA-9908652.1
startCoordinate	42
(hasMember)	[DefinedSet:9914215] Btn-MCCC1 mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by D532H Btn-MCCC1 [mitochondrial matrix] (9908652)