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Query author contributions in Reactome

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Details on Person F9 zymogen variant [extracellular region]

Class:IdCandidateSet:9673225
_displayNameF9 zymogen variant [extracellular region]
_timestamp2020-01-08 02:28:10
compartment[Compartment:984] extracellular region
created[InstanceEdit:9673229] Shamovsky, Veronica, 2020-01-07
disease[Disease:9670882] hemophilia B
hasCandidate
hasMember
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: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
[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
[LiteratureReference:9673380] Functional consequences of an arginine180 to glutamine mutation in factor IX Hilo
[LiteratureReference:9673396] Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase
[LiteratureReference:9673387] Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX
[LiteratureReference:9673390] Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145
[LiteratureReference:9673402] Molecular defects of factor IX Chicago-2 (Arg 145----His) and prothrombin Madrid (Arg 271----cys): arginine mutations that preclude zymogen activation
modified[InstanceEdit:9673408] Shamovsky, Veronica, 2020-01-07
[InstanceEdit:9673481] Shamovsky, Veronica, 2020-01-08
nameF9 zymogen variant
F9 variant
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9673252] R-HSA-9673225.1
(diseaseEntity)[EntityFunctionalStatus:9673206] loss_of_function of F9 zymogen variant [extracellular region]
(input)[FailedReaction:9673223] FIX(29-461) variant is not activated (factor XIa catalyst) [Homo sapiens]
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No pathways have been reviewed or authored by F9 zymogen variant [extracellular region] (9673225)
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