F8 R391C [extracellular region]

Stable Identifier
R-HSA-9667124
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII R391C
F8 R391C [extracellular region] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
1973901 CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site

Pattinson, JK, McVey, JH, Boon, M, Ajani, A, Tuddenham, EG

Br. J. Haematol. 1990
2109644 Purification and characterization of factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A

O'Brien, DP, Pattinson, JK, Tuddenham, EG

Blood 1990
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 391 replaced with L-cysteine
Coordinate
391
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-cysteine.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
Guide to Pharmacology - Targets
ClinGen
OpenTargets
Mondo
ZINC - Substances
ZINC target
PRO
GlyGen
GeneCards
F8
Pharos - Targets
Orphanet
F8
ZINC - Predictions - Purchasable
HMDB Protein
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