Reactome | PTEN R130L [cytosol]

Schema > EntityWithAccessionedSequence > Entries

PTEN R130L [cytosol] Show undefined attributes

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:2317427] Orlic-Milacic, M, 2012-06-11
crossReference	[DatabaseIdentifier:12021349] Mondo:0016063 [DatabaseIdentifier:2317429] COSMIC:COSV64291054
dbId	2317430
disease	[Disease:2317358] endometrial cancer [Disease:1500576] breast cancer [Disease:1500689] cancer [Disease:2317438] Cowden syndrome
displayName	PTEN R130L [cytosol]
endCoordinate	403
hasModifiedResidue	[ReplacedResidue:2317428] L-arginine 130 replaced with L-leucine
inDisease	true
literatureReference	[LiteratureReference:1889775] Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay [LiteratureReference:2318432] Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation
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 R130L PTEN Arg130Leu
referenceEntity	[ReferenceGeneProduct:uniprot:P60484] UniProt:P60484 PTEN
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2317430
startCoordinate	2
summation	[Summation:2317426] PTEN missense mutation that results in the substitution of a...
updateTrackers	[UpdateTracker:9972069] Update Tracker - [EntityWithAccessionedSequence:2317430] PTEN R130L [cytosol] - v95:[modifyStartCoordinate] [UpdateTracker:9887838] Update Tracker - [EntityWithAccessionedSequence:2317430] PTEN R130L [cytosol] - v46:[modifyName]

Referrals

(updatedInstance)	[UpdateTracker:9972069] Update Tracker - [EntityWithAccessionedSequence:2317430] PTEN R130L [cytosol] - v95:[modifyStartCoordinate] [UpdateTracker:9887838] Update Tracker - [EntityWithAccessionedSequence:2317430] PTEN R130L [cytosol] - v46:[modifyName]
(hasMember)	[CandidateSet:R-HSA-2317372] PTEN Phosphatase Domain Missense Mutants [cytosol]