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Details on Person HPRT1 G70E [cytosol]

Class:Id	EntityWithAccessionedSequence:9734286
_displayName	HPRT1 G70E [cytosol]
_timestamp	2021-06-16 19:54:48
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9734263] D'Eustachio, Peter, 2021-06-16
disease	[Disease:9734170] Lesch-Nyhan syndrome
endCoordinate	218
hasModifiedResidue	[ReplacedResidue:9734276] glycine 70 replaced with L-glutamic acid
literatureReference	[LiteratureReference:9734273] Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts [LiteratureReference:9734289] Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients
modified	[InstanceEdit:9734306] D'Eustachio, Peter, 2021-06-16
name	HPRT1 G70E Hypoxanthine-guanine phosphoribosyltransferase G70E
referenceEntity	[ReferenceGeneProduct:56640] UniProt:P00492 HPRT1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9734305] R-HSA-9734286.1
startCoordinate	2
(hasComponent)	[Complex:9734271] HPRT1 G70E tetramer [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by HPRT1 G70E [cytosol] (9734286)