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 P102L 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 P102L in PRIO_HUMAN

Point mutation:	P102L
Domain:	Not determined
General numbering (PrionDB):	-
Protein:	PRIO_HUMAN (PRNP)	Swiss-Prot Cross-reference table Family page
Other point mutations / same protein / same position	Point mutations at position 102 in PRIO_HUMAN
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 102 in Mammalian prion proteins family Position 102 in Prion proteins (PRP, PRNP) family
Reference:	Involvement of the spinal posterior horn in Gerstmann-Straussler-Scheinker disease (PrP P102L). Yamada M, Tomimitsu H, Yokota T, Tomi H, Sunohara N, Mukoyama M, Itoh Y, Suematsu N, Otomo E, Okeda R, Matsushita M, Mizusawa H Neurology 1999 Jan 15;52(2):260-5.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	Not yet checked

Relevant sentences:

P102L

Alert me when: new articles cite this article Download to Citation Manager Neurology 1999 ; 52:260 © 1999 American Academy of Neurology ------------------------------------------------------------------------ Articles Involvement of the spinal posterior horn in Gerstmann-Sträussler-Scheinker disease (PrP P102L) M
2 Later , this classic (ataxic) form of GSS , including the original family described by Gerstmann et al. , 1 was found to be associated with a missense mutation (Pro to Leu) at codon 102 (P102L) of the prion protein (PrP) gene (GSS102)
Gerstmann-Sträussler-Scheinker disease with PRNP P102L mutation and valine at codon 129
Barbanti P , Fabbrini G , Salvatore M , et al. Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation)
Piccardo P , Ghetti B , Dickson DW , et al. Gerstmann-Sträussler-Scheinker disease (PRNP P102L) : amyloid deposits are best recognized by antibodies directed to epitopes in PrP region 90-165
Singh Cell Surface Accumulation of a Truncated Transmembrane Prion Protein in Gerstmann-Straussler-Scheinker Disease P102L J

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