F8 R2326Q [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9661945
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII R2326Q
F8 R2326Q [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
8810344 Factor VIII C2 domain missense mutations exhibit defective trafficking of biologically functional proteins

Kaufman, RJ, Pipe, SW

J. Biol. Chem. 1996
8836140 Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A

De Laaf, RT, van Mourik, JA, Voorberg, J, Koster, PM

Biochem. J. 1996
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 2326 replaced with L-glutamine
Coordinate
2326
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-glutamine.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
ClinGen
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