Reactome | PTEN C124R [cytosol]

Schema > EntityWithAccessionedSequence > Entries

PTEN C124R [cytosol] Show undefined attributes

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:2317440] Orlic-Milacic, M, 2012-06-11
crossReference	[DatabaseIdentifier:12021350] Mondo:0005032
dbId	2317439
disease	[Disease:2317448] thyroid adenoma [Disease:2317438] Cowden syndrome [Disease:1500689] cancer
displayName	PTEN C124R [cytosol]
endCoordinate	403
hasModifiedResidue	[ReplacedResidue:2317445] L-cysteine 124 replaced with L-arginine
inDisease	true
literatureReference	[LiteratureReference:1889775] Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay [LiteratureReference:2317446] Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease [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 [LiteratureReference:2318357] Evidence for protein-tyrosine-phosphatase catalysis proceeding via a cysteine-phosphate intermediate
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 C124R PTEN Cys124Arg
referenceEntity	[ReferenceGeneProduct:uniprot:P60484] UniProt:P60484 PTEN
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2317439
startCoordinate	2
summation	[Summation:2317455] PTEN missense mutation that results in the substitution of c...
updateTrackers	[UpdateTracker:9888115] Update Tracker - [EntityWithAccessionedSequence:2317439] PTEN C124R [cytosol] - v46:[modifyName] [UpdateTracker:9972119] Update Tracker - [EntityWithAccessionedSequence:2317439] PTEN C124R [cytosol] - v95:[modifyStartCoordinate]

Referrals

(updatedInstance)	[UpdateTracker:9888115] Update Tracker - [EntityWithAccessionedSequence:2317439] PTEN C124R [cytosol] - v46:[modifyName] [UpdateTracker:9972119] Update Tracker - [EntityWithAccessionedSequence:2317439] PTEN C124R [cytosol] - v95:[modifyStartCoordinate]
(hasMember)	[CandidateSet:R-HSA-2317372] PTEN Phosphatase Domain Missense Mutants [cytosol]