Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

PTEN R130L [cytosol] Show undefined attributes

compartment

[Compartment:70101] cytosol

created [InstanceEdit:2317427] Orlic-Milacic, M, 2012年06月11日

crossReference

dbId 2317430

disease

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:3662293] Orlic-Milacic, M, 2013年06月06日

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 1

summation

[Summation:2317426] PTEN missense mutation that results in the substitution of a...

updateTrackers

[UpdateTracker:9887838] Update Tracker - [EntityWithAccessionedSequence:2317430] PTEN R130L [cytosol] - v46:[modifyName]

Referrals

(updatedInstance)

[UpdateTracker:9887838] Update Tracker - [EntityWithAccessionedSequence:2317430] PTEN R130L [cytosol] - v46:[modifyName]

(hasMember)

[CandidateSet:R-HSA-2317372] PTEN Phosphatase Domain Missense Mutants [cytosol]

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