Reactome | TCII P259R [extracellular region]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:984] extracellular region
consumedByEvent	[FailedReaction:R-HSA-3299657] Defective TCII does not bind Cbl in the circulation - Homo sapiens
created	[InstanceEdit:3315407] Jassal, B, 2013-04-25
crossReference	[DatabaseIdentifier:12020848] Mondo:0001700
dbId	3315449
disease	[Disease:3299649] megaloblastic anemia
displayName	TCII P259R [extracellular region]
endCoordinate	427
hasModifiedResidue	[ReplacedResidue:3315457] L-proline 259 replaced with L-arginine
inDisease	true
maxDepth	1
modified	[InstanceEdit:3968436] Jassal, Bijay, 2013-07-24
name	TCII P259R Transcobalamin-2 TCO2_HUMAN TCN2
referenceEntity	[ReferenceGeneProduct:uniprot:P20062] UniProt:P20062 TCN2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-3315449
startCoordinate	19

(input)	[FailedReaction:R-HSA-3299657] Defective TCII does not bind Cbl in the circulation
(diseaseEntity)	[EntityFunctionalStatus:3315448] loss_of_function of TCII P259R [extracellular region]

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