Reactome | F9(227-461) I443T [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:9670828] Shamovsky, Veronica, 2019-12-17
crossReference	[DatabaseIdentifier:9670909] ClinGen:CA255420
dbId	9670908
disease	[Disease:9670882] hemophilia B
displayName	F9(227-461) I443T [plasma membrane]
endCoordinate	461
hasModifiedResidue	[ReplacedResidue:9670814] L-isoleucine 443 replaced with L-threonine
inDisease	true
literatureReference	[LiteratureReference:9670818] Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, and Los Angeles) of hemophilia-B. Evidence for defects affecting the latent catalytic site [LiteratureReference:9670825] Replacement of isoleucine-397 by threonine in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but not L-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox brain prothrombin time and the mutation site in the variant proteins [LiteratureReference:9670835] Expression and characterization of human factor IX. Factor IXthr-397 and factor IXval-397
memberOf	[CandidateSet:R-HSA-9670837] F9(227-461) variant [plasma membrane] - Homo sapiens
name	F9(227-461) I443T factor IXa heavy chain I443T
referenceEntity	[ReferenceGeneProduct:54610] UniProt:P00740 F9
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9670908
startCoordinate	227

(hasMember)

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