F8 I2117S [extracellular region]

Stable Identifier
R-HSA-9665820
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII I2117S
F8 I2117S [extracellular region] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
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
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-isoleucine 2117 replaced with L-serine
Coordinate
2117
PsiMod
A protein modification that effectively converts a source amino acid residue to L-serine.
A protein modification that effectively removes or replaces an L-isoleucine.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
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