Reactome | F9(29-461) R43Q [extracellular region]

Schema > EntityWithAccessionedSequence > Entries

F9(29-461) R43Q [extracellular region] Show undefined attributes

compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9673229] Shamovsky, Veronica, 2020-01-07
crossReference	[DatabaseIdentifier:12020816] Mondo:0010604
dbId	9673228
disease	[Disease:9670882] hemophilia B
displayName	F9(29-461) R43Q [extracellular region]
endCoordinate	461
hasModifiedResidue	[ReplacedResidue:9673247] L-arginine 43 replaced with L-glutamine
inDisease	true
literatureReference	[LiteratureReference:9673188] Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa [LiteratureReference:9673249] Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw [LiteratureReference:159725] Factor IX San Dimas. Substitution of glutamine for Arg-4 in the propeptide leads to incomplete gamma-carboxylation and altered phospholipid binding properties. [LiteratureReference:9673183] The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa
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) R43Q factor IX propeptide R43Q
referenceEntity	[ReferenceGeneProduct:uniprot:P00740] UniProt:P00740 F9
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9673228
startCoordinate	29
updateTrackers	[UpdateTracker:9904974] Update Tracker - [EntityWithAccessionedSequence:9673228] F9(29-461) R43Q [extracellular region] - v84:[modifyName]

Referrals

(updatedInstance)	[UpdateTracker:9904974] Update Tracker - [EntityWithAccessionedSequence:9673228] F9(29-461) R43Q [extracellular region] - v84:[modifyName]
(hasMember)	[CandidateSet:R-HSA-9673225] F9 zymogen variant [extracellular region]

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