F8 P1828L [extracellular region]

Stable Identifier
R-HSA-9665790
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII P1828L
F8 P1828L [extracellular region] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
26278069 Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity

Nogami, K, Wakabayashi, H, Takeyama, M, Shima, M, Ogiwara, K, Yada, K

J. Thromb. Haemost. 2015
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 1828 replaced with L-leucine
Coordinate
1828
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-leucine.
A protein modification that effectively removes or replaces an L-proline.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
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