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 A117V 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 A117V in PRIO_MOUSE

Point mutation:	A117V
Domain:	Not determined
General numbering (PrionDB):	-
Protein:	PRIO_MOUSE (Prnp,Prn-p)	Swiss-Prot Cross-reference table Family page
Other point mutations / same protein / same position	Point mutations at position 117 in PRIO_MOUSE
Other point mutations / same protein	List of mutations in PRIO_MOUSE
Family alignments	Mammalian prion proteins Prion proteins (PRP, PRNP)
Other point mutations / same position	Position 118 in Mammalian prion proteins family Position 118 in Prion proteins (PRP, PRNP) family
Reference:	Combinatorial control of prion protein biogenesis by the signal sequence and transmembrane domain. Kim SJ, Rahbar R, Hegde RS J Biol Chem 2001 Jul 13;276(28):26132-40.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	Not yet checked

Relevant sentences:

A117V

Additionally , a human disease causing mutation in PrP (A117V , resulting in Gerstmann-Sträussler-Scheinker disease (7-10 )) was shown to result in increased generation of CtmPrP in vitro , in mice (which also developed neurodegenerative disease) , and in humans (4 , 5 )

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