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 R148H 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 R148H in PRIO_HUMAN

Point mutation:	R148H
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 148 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 148 in Mammalian prion proteins family Position 148 in Prion proteins (PRP, PRNP) family
Reference:	Sporadic and familial CJD: classification and characterisation. Gambetti P, Kong Q, Zou W, Parchi P, Chen SG Br Med Bull 2003;66:213-39.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	True positive

Relevant sentences:

R148H

R148H-129M is similar to sCJDMV2 in all aspects7 , 97
Pastore M , Castellani RJ , Chin S et al. CJD-associated with the novel R148H prion protein gene mutation

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