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:	A transmembrane form of the prion protein is localized in the Golgi apparatus of neurons. Stewart RS, Harris DA J Biol Chem 2005 Apr 22;280(16):15855-64. Epub 2005 Jan 25.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	True positive

Relevant sentences:

A117V

Some of these mutations (A117V and P105L) are associated with familial prion diseases , whereas others (3AV) are not seen in human patients
Because the brains of patients with the A117V mutation do not contain conventional PrP27-30 (the protease-resistant core of PrP Sc) (18 ) , it was proposed that CtmPrP , rather than PrP Sc , is the proximal cause of neurodegeneration in this these and possibly other cases of prion disease (7 , 8 )
3AV is the designation for the triple mutation A112V / A114V / A117V

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