F8 R2323H [extracellular region]

Stable Identifier
R-HSA-9665786
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII R2323H
F8 R2323H [extracellular region] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
15471879 Surface-exposed hemophilic mutations across the factor VIII C2 domain have variable effects on stability and binding activities

Spiegel, PC, Stoddard, BL, Murphy, P

J. Biol. Chem. 2004
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 2323 replaced with L-histidine
Coordinate
2323
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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