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Details on Person APRT D65V [cytosol]

Class:Id	EntityWithAccessionedSequence:9734183
_displayName	APRT D65V [cytosol]
_timestamp	2021-06-16 19:54:33
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9734180] D'Eustachio, Peter, 2021-06-15
disease	[Disease:9734160] adenine phosphoribosyltransferase deficiency
endCoordinate	180
hasModifiedResidue	[ReplacedResidue:9734188] L-aspartic acid 65 replaced with L-valine
literatureReference	[LiteratureReference:9734147] Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient
modified	[InstanceEdit:9734206] D'Eustachio, Peter, 2021-06-15 [InstanceEdit:9734263] D'Eustachio, Peter, 2021-06-16
name	APRT D65V Adenine phosphoribosyltransferase D65V
referenceEntity	[ReferenceGeneProduct:50172] UniProt:P07741 APRT [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9734198] R-HSA-9734183.1
startCoordinate	2
(hasComponent)	[Complex:9734186] APRT D65V dimer [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by APRT D65V [cytosol] (9734183)