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 P238S 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 P238S in PRIO_HUMAN

Point mutation:	P238S
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
Reference:	Molecular genetics of human prion diseases in Germany. Windl O, Giese A, Schulz-Schaeffer W, Zerr I, Skworc K, Arendt S, Oberdieck C, Bodemer M, Poser S, Kretzschmar HA Hum Genet 1999 Sep;105(3):244-52.	Medline
Other point mutations / same article	List
Text source	abstract
Validation status	True positive

Relevant sentences:

P238S

Two novel missense mutations (T188R and P238S) and several silent polymorphisms were found , demonstrating the quality of our screening procedure based on a modified version of the single-stranded conformational polymorphism technique

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