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Details on Person R385S Btn-MCCC1 [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9908676
_displayName	R385S Btn-MCCC1 [mitochondrial matrix]
_timestamp	2024-05-13 23:56:05
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9908677] Rothfels, Karen, 2024-04-22
crossReference	[DatabaseIdentifier:9909471] ClinGen:CA234237 [DatabaseIdentifier:9909462] ClinGen:CA355323031
disease	[Disease:9908651] 3-Methylcrotonyl-CoA carboxylase 1 deficiency
endCoordinate	725
hasModifiedResidue	[ModifiedResidue:508303] N6-biotinyl-L-lysine at 681 [ReplacedResidue:9908660] L-arginine 385 replaced with L-serine
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
modified	[InstanceEdit:9909483] Rothfels, Karen, 2024-05-13
name	R385S Btn-MCCC1 methylcrotonyl-CoA carboxylase alpha chain
referenceEntity	[ReferenceGeneProduct:59057] UniProt:Q96RQ3 MCCC1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9908678] R-HSA-9908676.1
startCoordinate	42
(hasMember)	[DefinedSet:9914215] Btn-MCCC1 mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by R385S Btn-MCCC1 [mitochondrial matrix] (9908676)