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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
12xCbxE-3D-F9(47-461) R226W [extracellular region]
Show undefined attributes
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compartment
[Compartment:984] extracellular region
created
[InstanceEdit:9673408] Shamovsky, Veronica, 2020-01-07
crossReference
[DatabaseIdentifier:9673378] ClinGen:CA255350
dbId
9673403
displayName
12xCbxE-3D-F9(47-461) R226W [extracellular region]
endCoordinate
461
hasModifiedResidue
[ReplacedResidue:9673399] L-arginine 226 replaced with L-tryptophan
[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
false
literatureReference
[LiteratureReference:140887] Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)
[LiteratureReference:140890] The occurrence of beta-hydroxyaspartic acid in the vitamin K-dependent blood coagulation zymogens
[LiteratureReference:9673387] Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX
[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
memberOf
[CandidateSet:R-HSA-9673225] F9 zymogen variant [extracellular region] - Homo sapiens
name
12xCbxE-3D-F9(47-461) R226W
12xCbxE-3D-F9 R226W
factor IX R226W
referenceEntity
[ReferenceGeneProduct:54610] UniProt:P00740 F9
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9673403
startCoordinate
47
Referrals
(hasMember)
[CandidateSet:R-HSA-9673225] F9 zymogen variant [extracellular region]
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