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Search ...
Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
12xCbxE-3D-F9(47-461) R191C [extracellular region]
Show undefined attributes
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compartment
[Compartment:984] extracellular region
created
[InstanceEdit:9673408] Shamovsky, Veronica, 2020-01-07
crossReference
[DatabaseIdentifier:9673400] ClinGen:CA255340
dbId
9673391
disease
[Disease:9670882] hemophilia B
displayName
12xCbxE-3D-F9(47-461) R191C [extracellular region]
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
inDisease
true
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
memberOf
[CandidateSet:R-HSA-9673225] F9 zymogen variant [extracellular region] - Homo sapiens
name
12xCbxE-3D-F9(47-461) R191C
12xCbxE-3D-F9 R191C
factor IX R191C
referenceEntity
[ReferenceGeneProduct:54610] UniProt:P00740 F9
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9673391
startCoordinate
47
Referrals
(hasMember)
[CandidateSet:R-HSA-9673225] F9 zymogen variant [extracellular region]
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