F8 R612C [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9662023
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII R612C
F8 R612C [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-arginine 612 replaced with L-cysteine
Coordinate
612
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-cysteine.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
Guide to Pharmacology - Targets
ClinGen
OpenTargets
ZINC - Substances
ZINC target
PRO
GlyGen
GeneCards
F8
Pharos - Targets
Orphanet
F8
ZINC - Predictions - Purchasable
HMDB Protein
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