Reactome | PTEN R130G [cytosol]

Schema > EntityWithAccessionedSequence > Entries

PTEN R130G [cytosol] Show undefined attributes

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:2317335] Orlic-Milacic, M, 2012-06-11
crossReference	[DatabaseIdentifier:12021321] Mondo:0003812 [DatabaseIdentifier:2317351] COSMIC:COSV64288384
dbId	2317339
disease	[Disease:1500689] cancer [Disease:1247632] glioblastoma [Disease:1500699] lung cancer [Disease:2317358] endometrial cancer [Disease:2317371] ovarian endometrioid neoplasm
displayName	PTEN R130G [cytosol]
endCoordinate	403
hasModifiedResidue	[ReplacedResidue:2317336] L-arginine 130 replaced with glycine
inDisease	true
literatureReference	[LiteratureReference:2317362] Motif analysis of the tumor suppressor gene MMAC/PTEN identifies tyrosines critical for tumor suppression and lipid phosphatase activity [LiteratureReference:1889775] Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay [LiteratureReference:2317361] PTEN1 is frequently mutated in primary endometrial carcinomas [LiteratureReference:2317403] Molecular genetic defects in endometrial carcinomas: microsatellite instability, PTEN and beta-catenin (CTNNB1) genes mutations [LiteratureReference:2317505] Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association [LiteratureReference:2317493] Crystal structure of human protein tyrosine phosphatase 1B
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 R130G PTEN Arg130Gly
referenceEntity	[ReferenceGeneProduct:uniprot:P60484] UniProt:P60484 PTEN
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2317339
startCoordinate	2
summation	[Summation:2317364] PTEN missense mutation that results in the substitution of a...
updateTrackers	[UpdateTracker:9972077] Update Tracker - [EntityWithAccessionedSequence:2317339] PTEN R130G [cytosol] - v95:[modifyStartCoordinate] [UpdateTracker:9888173] Update Tracker - [EntityWithAccessionedSequence:2317339] PTEN R130G [cytosol] - v46:[modifyName]

Referrals

(updatedInstance)	[UpdateTracker:9972077] Update Tracker - [EntityWithAccessionedSequence:2317339] PTEN R130G [cytosol] - v95:[modifyStartCoordinate] [UpdateTracker:9888173] Update Tracker - [EntityWithAccessionedSequence:2317339] PTEN R130G [cytosol] - v46:[modifyName]
(hasMember)	[CandidateSet:R-HSA-2317372] PTEN Phosphatase Domain Missense Mutants [cytosol]