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 Q219K 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 Q219K in PRIO_CRIGR

Point mutation:	Q219K
Domain:	Not determined
General numbering (PrionDB):	-
Protein:	PRIO_CRIGR (PRNP)	Swiss-Prot Cross-reference table Family page
Other point mutations / same protein	List of mutations in PRIO_CRIGR
Family alignments	Mammalian prion proteins Prion proteins (PRP, PRNP)
Other point mutations / same position	Position 219 in Mammalian prion proteins family Position 219 in Prion proteins (PRP, PRNP) family
Reference:	The prion gene complex encoding PrP(C) and Doppel: insights from mutational analysis. Mastrangelo P, Westaway D Gene 2001 Sep 5;275(1):1-18.	Medline
Other point mutations / same article	List
Text source	PDF full text
Validation status	Not yet checked

Relevant sentences:

Q219K

F-CJD) (Collinge , 2001) Q219K Human (Asian) (Shibuya et al. , 1998) A136V Sheep (many breeds) Natural scrapie (Goldmann et al. , 1994 ; Laplanche et al. , 1993) Q171R Sheep (especially Suffolk) Natural scrapie (Goldmann et al. , 1990 ; Westaway et al. , 1994a) Table 2 A spectrum of infectivity levels in familial prion diseases Genetic diseasea PrP27-30-like protease-resistant PrP Transmission to non-human primates? Transmission to mice?b F-CJD Yes Up to 85% cases for the E200K mutation Yes FFI Low levels (Negative) Yes GSS No , 40% cases Yes PRNP 145 stop No No? No? a The dataset excludes a number of rare `atypical' or putative familial prion diseases characterized by a single patient or family
Notably this epitope includes residue 171 , the site of a Q / R polymorphism (Goldmann et al. , 1988) strongly associated with resistance to natural scrapie in Suffolk sheep (O'Rourke et al. , 1997 ; Westaway et al. , 1994a) , and Q219K PRNP polymorphism present in the Japanese population that may confer resistance to sCJD (Shibuya et al. , 1998)

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