F8 D845E [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9662689
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII D845E
F8 D845E [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
24108539 Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein

Pahl, S, Oldenburg, J, Driesen, J, Pavlova, A

Thromb. Haemost. 2014
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-aspartic acid 845 replaced with L-glutamic acid
Coordinate
845
PsiMod
A protein modification that effectively removes or replaces an L-aspartic acid.
A protein modification that effectively converts a source amino acid residue to an L-glutamic acid.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
ClinGen
Cite Us!