F8 R2169H [extracellular region]

Stable Identifier
R-HSA-9665787
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII R2169H
F8 R2169H [extracellular region] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
10456452 Some factor VIII (FVIII) inhibitors recognise a FVIII epitope(s) that is present only on FVIII-vWF complexes

Saint-Remy, JM, Mazurier, C, Jorieux, S, Gilles, JG, Peerlinck, K, Jacquemin, MG, Vermylen, J, Hoylaerts, M, Lavend'homme, R

Thromb. Haemost. 1999
10910910 A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor

Saint-Remy, JM, Gilles, JG, Schwaab, R, Jacquemin, M, Peerlinck, K, Vanzieleghem, B, Benhida, A, Chuah, MK, d'Oiron, R, Lavergne, JM, Brackmann, HH, Vermylen, J, Hoylaerts, M, VandenDriessche, T, Lavend'homme, R

Blood 2000
10607698 A human antibody directed to the factor VIII C1 domain inhibits factor VIII cofactor activity and binding to von Willebrand factor

Saint-Remy, JM, Vander Elst, L, Gilles, JG, Schwaab, R, Jacquemin, M, Peerlinck, K, Benhida, A, d'Oiron, R, Thielemans, K, Bakkus, M, Desqueper, B, Vermylen, J, Lavend'homme, R

Blood 2000
External Reference Information
External Reference
Gene Names
F8, F8C
Chain
signal peptide:1-19, chain:20-2351, chain:20-1332, chain:20-759, chain:760-1332, chain:1668-2351
Participates
Other forms of this molecule
Modified Residues
Name
L-arginine 2169 replaced with L-histidine
Coordinate
2169
PsiMod
A protein modification that effectively removes or replaces an L-arginine.
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
Guide to Pharmacology - Targets
ClinGen
OpenTargets
ZINC - Substances
ZINC target
PRO
GlyGen
GeneCards
F8
Pharos - Targets
Orphanet
F8
ZINC - Predictions - Purchasable
HMDB Protein
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