F8 P2319S [extracellular region]

Stable Identifier
R-HSA-9665836
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII P2319S
F8 P2319S [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-proline 2319 replaced with L-serine
Coordinate
2319
PsiMod
A protein modification that effectively removes or replaces an L-proline.
A protein modification that effectively converts a source amino acid residue to L-serine.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
ClinGen
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