Reactome | 12xCbxE-3D-F9(47-461) R191H [extracellular region]

Schema > EntityWithAccessionedSequence > Entries

12xCbxE-3D-F9(47-461) R191H [extracellular region] Show undefined attributes

compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9673408] Shamovsky, Veronica, 2020-01-07
crossReference	[DatabaseIdentifier:12020816] Mondo:0010604 [DatabaseIdentifier:9673394] ClinGen:CA255342
dbId	9673404
disease	[Disease:9670882] hemophilia B
displayName	12xCbxE-3D-F9(47-461) R191H [extracellular region]
endCoordinate	461
hasModifiedResidue	[ReplacedResidue:9673384] L-arginine 191 replaced with L-histidine [ModifiedResidue:140824] L-gamma-carboxyglutamic acid at 86 [ModifiedResidue:140835] L-gamma-carboxyglutamic acid at 82 [ModifiedResidue:140836] L-gamma-carboxyglutamic acid at 79 [ModifiedResidue:140878] L-gamma-carboxyglutamic acid at 76 [ModifiedResidue:140879] L-gamma-carboxyglutamic acid at 73 [ModifiedResidue:140880] L-gamma-carboxyglutamic acid at 72 [ModifiedResidue:140881] L-gamma-carboxyglutamic acid at 67 [ModifiedResidue:140882] L-gamma-carboxyglutamic acid at 66 [ModifiedResidue:140883] L-gamma-carboxyglutamic acid at 63 [ModifiedResidue:140884] L-gamma-carboxyglutamic acid at 61 [ModifiedResidue:140885] L-gamma-carboxyglutamic acid at 54 [ModifiedResidue:8865023] L-gamma-carboxyglutamic acid at 53 [ModifiedResidue:140818] (2S,3R)-3-hydroxyaspartic acid at 110
inDisease	true
literatureReference	[LiteratureReference:9673402] Molecular defects of factor IX Chicago-2 (Arg 145----His) and prothrombin Madrid (Arg 271----cys): arginine mutations that preclude zymogen activation
maxDepth	1
memberOf	[CandidateSet:R-HSA-9673225] F9 zymogen variant [extracellular region] - Homo sapiens
name	12xCbxE-3D-F9(47-461) R191H 12xCbxE-3D-F9 R191H factor IX R191H
referenceEntity	[ReferenceGeneProduct:uniprot:P00740] UniProt:P00740 F9
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9673404
startCoordinate	47

Referrals

(hasMember)

[CandidateSet:R-HSA-9673225] F9 zymogen variant [extracellular region]

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