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Details on Person A333P ACAT1(35-427) [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9915341
_displayName	A333P ACAT1(35-427) [mitochondrial matrix]
_timestamp	2024-07-04 22:06:55
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9915334] Rothfels, Karen, 2024-07-04
crossReference	[DatabaseIdentifier:9915328] ClinGen:CA252471
disease	[Disease:9915327] beta-ketothiolase deficiency
endCoordinate	427
hasModifiedResidue	[ReplacedResidue:9915336] L-alanine 333 replaced with L-proline
literatureReference	[LiteratureReference:9915323] Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency
name	A333P ACAT1(35-427) acetyl-CoA acetyltransferase Acetyl-CoA acetyltransferase, mitochondrial Acetoacetyl-CoA thiolase ACAT1
referenceEntity	[ReferenceGeneProduct:65997] UniProt:P24752 ACAT1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9915347] R-HSA-9915341.1
startCoordinate	35
(hasCandidate)	[CandidateSet:9915349] ACAT1 mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by A333P ACAT1(35-427) [mitochondrial matrix] (9915341)