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

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F9(227-461) variant [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-9670846] FIXa variant [plasma membrane] - Homo sapiens
created	[InstanceEdit:9670828] Shamovsky, Veronica, 2019-12-17
crossReference	[DatabaseIdentifier:12020816] Mondo:0010604
dbId	9670837
disease	[Disease:9670882] hemophilia B
displayName	F9(227-461) variant [plasma membrane]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-9670824] F9(227-461) G357R [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9671012] F9(227-461) S411T [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9673454] F9(227-461) V419E [plasma membrane] - Homo sapiens
hasMember	[EntityWithAccessionedSequence:R-HSA-9670862] F9(227-461) G363R [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670894] F9(227-461) G363E [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670902] F9(227-461) G357E [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670807] F9(227-461) A436V [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9670908] F9(227-461) I443T [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9671020] F9(227-461) G409V [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9671007] F9(227-461) D410H [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9671010] F9(227-461) S411I [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9671021] F9(227-461) S411G [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9673460] F9(227-461) V359D [plasma membrane] - Homo sapiens
inDisease	true
literatureReference	[LiteratureReference:9670916] Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities [LiteratureReference:9670918] Expression and Characterization of Gly-317 Variants of Factor IX Causing Variable Bleeding in Hemophilia B Patients [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:9671011] Experimental and theoretical evidence supporting the role of Gly363 in blood coagulation factor IXa (Gly193 in chymotrypsin) for proper activation of the proenzyme [LiteratureReference:9671002] Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX [LiteratureReference:9673459] Factor IX Bm Kiryu: a Val-313-to-Asp substitution in the catalytic domain results in loss of function due to a conformational change of the surface loop: evidence obtained by chimaeric modelling
maxDepth	2
modified	[InstanceEdit:9673467] Shamovsky, Veronica, 2020-01-07
name	F9(227-461) variant
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9670837

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[Complex:R-HSA-9670846] FIXa variant [plasma membrane]

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