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Details on Person G217D AUH [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9914312
_displayName	G217D AUH [mitochondrial matrix]
_timestamp	2024-06-23 17:10:17
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9914318] Rothfels, Karen, 2024-06-23
crossReference	[DatabaseIdentifier:9914320] ClinGen:CA128916
disease	[Disease:9914268] 3-methylglutaconic aciduria
endCoordinate	339
hasModifiedResidue	[ReplacedResidue:9914319] glycine 217 replaced with L-aspartic acid
literatureReference	[LiteratureReference:9914306] NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism [LiteratureReference:9914286] 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy
name	G217D AUH methylglutaconyl-CoA hydratase AU RNA binding protein
referenceEntity	[ReferenceGeneProduct:85696] UniProt:Q13825 AUH [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9914326] R-HSA-9914312.1
startCoordinate	68
(hasMember)	[DefinedSet:9914265] AUH mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by G217D AUH [mitochondrial matrix] (9914312)