F8 N2137Q [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9672984
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FVIII N2137Q
F8 N2137Q [endoplasmic reticulum lumen] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
29444815 Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII

Zhu, M, Gilmore, R, Zhang, B, Zhu, X, Yang, R, Misra, S, Cannon, MV, Wei, W

Biochem. J. 2018
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 2137 replaced with L-glutamine
Coordinate
2137
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
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
Cross References
ClinGen
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