Reactome | R385S Btn-MCCC1 [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

R385S Btn-MCCC1 [mitochondrial matrix] Show undefined attributes

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9908677] Rothfels, Karen, 2024-04-22
crossReference	[DatabaseIdentifier:12020924] Mondo:0008861 [DatabaseIdentifier:9909471] ClinGen:CA234237 [DatabaseIdentifier:9909462] ClinGen:CA355323031
dbId	9908676
disease	[Disease:9908651] 3-Methylcrotonyl-CoA carboxylase 1 deficiency
displayName	R385S Btn-MCCC1 [mitochondrial matrix]
endCoordinate	725
hasModifiedResidue	[ModifiedResidue:508303] N6-biotinyl-L-lysine at 681 [ReplacedResidue:9908660] L-arginine 385 replaced with L-serine
inDisease	true
literatureReference	[LiteratureReference:9908592] 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals [LiteratureReference:9908641] The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism [LiteratureReference:9908581] 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening [LiteratureReference:9908587] 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening [LiteratureReference:9908611] Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency [LiteratureReference:9908598] A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency [LiteratureReference:9908603] Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy
maxDepth	1
memberOf	[DefinedSet:R-HSA-9914215] Btn-MCCC1 mutants [mitochondrial matrix] - Homo sapiens
modified	[InstanceEdit:9909483] Rothfels, Karen, 2024-05-13
name	R385S 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-9908676
startCoordinate	42

Referrals

(hasMember)

[DefinedSet:R-HSA-9914215] Btn-MCCC1 mutants [mitochondrial matrix]