F8 G1967D [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9661946
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII G1967D
F8 G1967D [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
11380445 Stable recombinant expression and characterization of the two haemophilic factor VIII variants C329S (CRM(-)) and G1948D (CRM(r))

Tuddenham, EG, David, D, McVey, JH, Saenko, EL, Kemball-Cook, G, Johnson, DJ, Santos, IM

Br. J. Haematol. 2001
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
glycine 1967 replaced with L-aspartic acid
Coordinate
1967
PsiMod
A protein modification that effectively removes or replaces an glycine.
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
ClinGen
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