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Details on Person M325R Btn-MCCC1 [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9908669
_displayName	M325R Btn-MCCC1 [mitochondrial matrix]
_timestamp	2024-05-13 23:56:04
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9908670] Rothfels, Karen, 2024-04-22
crossReference	[DatabaseIdentifier:9909440] ClinGen:CA251975
disease	[Disease:9908651] 3-Methylcrotonyl-CoA carboxylase 1 deficiency
endCoordinate	725
hasModifiedResidue	[ModifiedResidue:508303] N6-biotinyl-L-lysine at 681 [ReplacedResidue:9908664] L-methionine 325 replaced with L-arginine
literatureReference	[LiteratureReference:9908641] The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism [LiteratureReference:9908592] 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals
modified	[InstanceEdit:9909483] Rothfels, Karen, 2024-05-13
name	M325R Btn-MCCC1 methylcrotonyl-CoA carboxylase alpha chain
referenceEntity	[ReferenceGeneProduct:59057] UniProt:Q96RQ3 MCCC1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9908671] R-HSA-9908669.1
startCoordinate	42
(hasMember)	[DefinedSet:9914215] Btn-MCCC1 mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by M325R Btn-MCCC1 [mitochondrial matrix] (9908669)