Reactome | PTEN R130Q [cytosol]

Schema > EntityWithAccessionedSequence > Entries

PTEN R130Q [cytosol] Show undefined attributes

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:2317407] Orlic-Milacic, M, 2012-06-11
crossReference	[DatabaseIdentifier:12021333] Mondo:0005509 [DatabaseIdentifier:2317422] COSMIC:COSV64288376
dbId	2317416
disease	[Disease:2317358] endometrial cancer [Disease:1996312] brain glioma [Disease:1655470] thyroid cancer [Disease:1500576] breast cancer [Disease:1500575] ovarian cancer [Disease:1248674] large intestine cancer [Disease:1500689] cancer [Disease:2317423] histiocytoma
displayName	PTEN R130Q [cytosol]
endCoordinate	403
hasModifiedResidue	[ReplacedResidue:2317414] L-arginine 130 replaced with L-glutamine
inDisease	true
literatureReference	[LiteratureReference:1889775] Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay [LiteratureReference:2317403] Molecular genetic defects in endometrial carcinomas: microsatellite instability, PTEN and beta-catenin (CTNNB1) genes mutations
maxDepth	1
memberOf	[CandidateSet:R-HSA-2317372] PTEN Phosphatase Domain Missense Mutants [cytosol] - Homo sapiens
modified	[InstanceEdit:9967512] D'Eustachio, Peter, 2025-09-30
name	PTEN R130Q PTEN Arg130Gln
referenceEntity	[ReferenceGeneProduct:uniprot:P60484] UniProt:P60484 PTEN
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2317416
startCoordinate	2
summation	[Summation:2317415] PTEN missense mutation that results in the substitution of a...
updateTrackers	[UpdateTracker:9972015] Update Tracker - [EntityWithAccessionedSequence:2317416] PTEN R130Q [cytosol] - v95:[modifyStartCoordinate] [UpdateTracker:9888031] Update Tracker - [EntityWithAccessionedSequence:2317416] PTEN R130Q [cytosol] - v46:[modifyName]

Referrals

(updatedInstance)	[UpdateTracker:9972015] Update Tracker - [EntityWithAccessionedSequence:2317416] PTEN R130Q [cytosol] - v95:[modifyStartCoordinate] [UpdateTracker:9888031] Update Tracker - [EntityWithAccessionedSequence:2317416] PTEN R130Q [cytosol] - v46:[modifyName]
(hasMember)	[CandidateSet:R-HSA-2317372] PTEN Phosphatase Domain Missense Mutants [cytosol]