Reactome | F9(29-461) R46S [extracellular region]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9673229] Shamovsky, Veronica, 2020-01-07
crossReference	[DatabaseIdentifier:12020816] Mondo:0010604
dbId	9673193
disease	[Disease:9670882] hemophilia B
displayName	F9(29-461) R46S [extracellular region]
endCoordinate	461
hasModifiedResidue	[ReplacedResidue:9673187] L-arginine 46 replaced with L-serine
inDisease	true
literatureReference	[LiteratureReference:9673214] Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor
maxDepth	1
memberOf	[CandidateSet:R-HSA-9673225] F9 zymogen variant [extracellular region] - Homo sapiens
modified	[InstanceEdit:9829022] Orlic-Milacic, Marija, 2023-02-21
name	F9(29-461) R46S factor IX propeptide R46S
referenceEntity	[ReferenceGeneProduct:uniprot:P00740] UniProt:P00740 F9
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9673193
startCoordinate	29
updateTrackers	[UpdateTracker:9905057] Update Tracker - [EntityWithAccessionedSequence:9673193] F9(29-461) R46S [extracellular region] - v84:[modifyName]

(updatedInstance)	[UpdateTracker:9905057] Update Tracker - [EntityWithAccessionedSequence:9673193] F9(29-461) R46S [extracellular region] - v84:[modifyName]
(hasMember)	[CandidateSet:R-HSA-9673225] F9 zymogen variant [extracellular region]

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