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Details on Person PTEN R130P [cytosol]

Class:Id	EntityWithAccessionedSequence:2317432
_displayName	PTEN R130P [cytosol]
_timestamp	2025-09-30 14:55:00
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:2317435] Orlic-Milacic, M, 2012-06-11
crossReference	[DatabaseIdentifier:2317434] COSMIC:COSV64288604
disease	[Disease:2317358] endometrial cancer [Disease:1500576] breast cancer [Disease:1247632] glioblastoma [Disease:1500689] cancer
endCoordinate	403
hasModifiedResidue	[ReplacedResidue:2317436] L-arginine 130 replaced with L-proline
literatureReference	[LiteratureReference:1889775] Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay [LiteratureReference:2317493] Crystal structure of human protein tyrosine phosphatase 1B [LiteratureReference:2317505] Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association
modified	[InstanceEdit:2317508] Orlic-Milacic, M, 2012-06-12 [InstanceEdit:3662293] Orlic-Milacic, M, 2013-06-06 [InstanceEdit:9967512] D'Eustachio, Peter, 2025-09-30
name	PTEN R130P PTEN Arg130Pro
referenceEntity	[ReferenceGeneProduct:62405] UniProt:P60484 PTEN [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:2465406] R-HSA-2317432.2
startCoordinate	2
summation	[Summation:2317433] PTEN missense mutation that results in the substitution of a...
(hasCandidate)	[CandidateSet:2317372] PTEN Phosphatase Domain Missense Mutants [cytosol] [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9887989] Update Tracker - [EntityWithAccessionedSequence:2317432] PTEN R130P [cytosol] - v46:[modifyName] [_UpdateTracker:9972665] Update Tracker - [EntityWithAccessionedSequence:2317432] PTEN R130P [cytosol] - v95:[modifyStartCoordinate]
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No pathways have been reviewed or authored by PTEN R130P [cytosol] (2317432)