F8 N637S [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9661996
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII N637S
F8 N637S [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
10691849 Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A

Peters, M, Timmermans, SM, De Laaf, RT, van Mourik, JA, Voorberg, J, Roelse, JC

Br. J. Haematol. 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-asparagine 637 replaced with L-serine
Coordinate
637
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-asparagine.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
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