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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
PTEN R130Q [cytosol]
Show undefined attributes
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compartment
[Compartment:70101] cytosol
created
[InstanceEdit:2317407] Orlic-Milacic, M, 2012年06月11日
crossReference
[DatabaseIdentifier:11945467] Mondo:0005509
[DatabaseIdentifier:11944899] Mondo:0005575
[DatabaseIdentifier:11945233] Mondo:0005499
[DatabaseIdentifier:11944927] Mondo:0011962
[DatabaseIdentifier:11945166] Mondo:0002108
[DatabaseIdentifier:11944896] Mondo:0008170
[DatabaseIdentifier:11944895] Mondo:0007254
[DatabaseIdentifier:11944892] Mondo:0004992
[DatabaseIdentifier:2317422] COSMIC:COSV64288376
dbId
2317416
disease
[Disease:2317358] endometrial cancer
[Disease:1996312] brain glioma
[Disease:1655470] thyroid cancer
[Disease:1500576] breast cancer
[Disease:1500575] ovarian cancer
[Disease:1248674] large intestine cancer
[Disease:1500689] cancer
[Disease:2317423] histiocytoma
displayName
PTEN R130Q [cytosol]
endCoordinate
403
hasModifiedResidue
[ReplacedResidue:2317414] L-arginine 130 replaced with L-glutamine
inDisease
true
literatureReference
[LiteratureReference:1889775] Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay
[LiteratureReference:2317403] Molecular genetic defects in endometrial carcinomas: microsatellite instability, PTEN and beta-catenin (CTNNB1) genes mutations
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 R130Q
PTEN Arg130Gln
referenceEntity
[ReferenceGeneProduct:uniprot:P60484] UniProt:P60484 PTEN
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-2317416
startCoordinate
1
summation
[Summation:2317415] PTEN missense mutation that results in the substitution of a...
updateTrackers
[UpdateTracker:9888031] Update Tracker - [EntityWithAccessionedSequence:2317416] PTEN R130Q [cytosol] - v46:[modifyName]
Referrals
(updatedInstance)
[UpdateTracker:9888031] Update Tracker - [EntityWithAccessionedSequence:2317416] PTEN R130Q [cytosol] - v46:[modifyName]
(hasMember)
[CandidateSet:R-HSA-2317372] PTEN Phosphatase Domain Missense Mutants [cytosol]
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