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:	Post-translational import of the prion protein into the endoplasmic reticulum interferes with cell viability: a critical role for the putative transmembrane domain. Heller U, Winklhofer KF, Heske J, Reintjes A, Tatzelt J J Biol Chem 2003 Sep 19;278(38):36139-47. Epub 2003 Jul 8.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	True positive

Relevant sentences:

A117V

Remarkably , the increased synthesis of CtmPrP has been shown to coincide with progressive neurodegeneration both in Gerstmann-Sträussler-Scheinker syndrome patients with an A117V mutation and in transgenic mice carrying a triple mutation within the putative TM domain (AV3) (17 )

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