Reactome | PTEN H93R [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:2318522] Orlic-Milacic, M, 2012-06-13
crossReference	[DatabaseIdentifier:12021191] Mondo:0005258 [DatabaseIdentifier:2318527] COSMIC:COSV64296545
dbId	2318524
disease	[Disease:1500689] cancer [Disease:1247632] glioblastoma [Disease:2318530] autism spectrum disorder
displayName	PTEN H93R [cytosol]
endCoordinate	403
hasModifiedResidue	[ReplacedResidue:2318526] L-histidine 93 replaced with L-arginine
inDisease	true
literatureReference	[LiteratureReference:2318535] A mutant form of PTEN linked to autism [LiteratureReference:2318539] Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene 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 H93R PTEN His93Arg
referenceEntity	[ReferenceGeneProduct:uniprot:P60484] UniProt:P60484 PTEN
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2318524
startCoordinate	2
summation	[Summation:2318529] PTEN missense mutation that results in the substitution of h...
updateTrackers	[UpdateTracker:9972206] Update Tracker - [EntityWithAccessionedSequence:2318524] PTEN H93R [cytosol] - v95:[modifyStartCoordinate] [UpdateTracker:9887608] Update Tracker - [EntityWithAccessionedSequence:2318524] PTEN H93R [cytosol] - v46:[modifyName]

(updatedInstance)	[UpdateTracker:9972206] Update Tracker - [EntityWithAccessionedSequence:2318524] PTEN H93R [cytosol] - v95:[modifyStartCoordinate] [UpdateTracker:9887608] Update Tracker - [EntityWithAccessionedSequence:2318524] PTEN H93R [cytosol] - v46:[modifyName]
(hasMember)	[CandidateSet:R-HSA-2317372] PTEN Phosphatase Domain Missense Mutants [cytosol]

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