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Details on Person 12xCbxE-3D-F9(47-461) R191C [extracellular region]

Class:Id	EntityWithAccessionedSequence:9673391
_displayName	12xCbxE-3D-F9(47-461) R191C [extracellular region]
_timestamp	2020-01-07 11:49:08
compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9673408] Shamovsky, Veronica, 2020-01-07
crossReference	[DatabaseIdentifier:9673400] ClinGen:CA255340
disease	[Disease:9670882] hemophilia B
endCoordinate	461
hasModifiedResidue	[ReplacedResidue:9673388] L-arginine 191 replaced with L-cysteine [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
literatureReference	[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
name	12xCbxE-3D-F9(47-461) R191C 12xCbxE-3D-F9 R191C factor IX R191C
referenceEntity	[ReferenceGeneProduct:54610] UniProt:P00740 F9 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9673420] R-HSA-9673391.1
startCoordinate	47
(hasMember)	[CandidateSet:9673225] F9 zymogen variant [extracellular region] [Homo sapiens]
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No pathways have been reviewed or authored by 12xCbxE-3D-F9(47-461) R191C [extracellular region] (9673391)