Article
Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity.
FEBS letters - 1 Oct 2013
Branchini Alessio, Campioni Matteo, Mazzucconi Maria Gabriella, Biondo Francesca, Mari Rosella, Bicocchi Maria Patrizia, Bernardi Francesco, Pinotti Mirko
Abstract excerpt
The interplay between impaired protein biosynthesis and/or function caused by missense mutations, particularly in relation to specific protein regions, has been poorly investigated. As model we chose the severe p.Y450C mutation in the carboxyl-terminal region of coagulation factor IX (FIX) and, by expression of a panel of recombinant variants, demonstrated the key role of the tyrosine phenyl group for both FIX...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Primers
- Factor IX
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Sequence Homology, Amino Acid