PrionDB: Extraction of mutation data from the literature

2005, PrionDB.

This data was extracted from Medline abstracts and full texts (when available) in an automated manner.

The table below describes the selected point mutation and provides links to other documents. The sentence(s) where the point mutation L9R was found are listed after the table.

The mutated residues are also indicated in the family sequence alignments and hyperlinked to the corresponding mutation pages.

Point mutation L9R in PRIO_HUMAN

Point mutation:	L9R
Domain:	Not determined
General numbering (PrionDB):	-
Protein:	PRIO_HUMAN (PRNP)	Swiss-Prot Cross-reference table Family page
Other point mutations / same protein	List of mutations in PRIO_HUMAN
Family alignments	Mammalian prion proteins Prion proteins (PRP, PRNP)
Other point mutations / same position	Position 9 in Mammalian prion proteins family Position 9 in Prion proteins (PRP, PRNP) family
Reference:	Trafficking, turnover and membrane topology of PrP. Harris DA Br Med Bull 2003;66:71-85.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	Not yet checked

Relevant sentences:

L9R

Consistent with this idea , we found that the substitution of a charged residue for a hydrophobic residue within the signal sequence (L9R) markedly increased the proportion of CtmPrP to ~50% after in vitro translation
Combining this mutation with 3AV , a mutation within the transmembrane domain , to create L9R / 3AV resulted in a protein that was synthesised exclusively as CtmPrP , in both in vitro translation reactions and transfected cells66
The availability of L9R / 3AV PrP provided us for the first time the ability to analyse the properties of CtmPrP in a cellular context in the absence of the other two topological variants66
By labelling cells expressing L9R / 3AV PrP with [3H]-palmitate , we demonstrated that CtmPrP contains a GPI anchor
We also found that L9R / 3AV PrP (and hence CtmPrP) is absent from the cell surface , and is completely retained in the ER when expressed in transfected cells

F.Horn (priondbcmbi.ru.nl), 22-Aug-2005