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 N181Q 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 N181Q in PRIO_HUMAN

Point mutation:	N181Q
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 181 in Mammalian prion proteins family Position 181 in Prion proteins (PRP, PRNP) family
Reference:	Effect of the E200K mutation on prion protein metabolism. Comparative study of a cell model and human brain. Capellari S, Parchi P, Russo CM, Sanford J, Sy MS, Gambetti P, Petersen RB Am J Pathol 2000 Aug;157(2):613-22.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	True positive

Relevant sentences:

N181Q

Moreover , cell lines with PrP mutated at codon 181 or 199 , either combined or not with the E200K mutation (N181Q / 129M ; N181Q / 129M / E200K ; T199A / 129M ; T199A / 129M / E200K) , were constructed
Second , we used N181Q and T199A glycosylation knock-out mutants with or without the E200K substitution , and demonstrated a difference in mobility between the PrP M and PrP C I forms only in the 181-glycan knock-out (N181Q) mutant (Figure 2C)(image)

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