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 D178N 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 D178N in PRIO_HUMAN

Point mutation:	D178N
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 178 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 178 in Mammalian prion proteins family Position 178 in Prion proteins (PRP, PRNP) family
Reference:	Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. Laplanche JL, Hachimi KH, Durieux I, Thuillet P, Defebvre L, Delasnerie-Laupretre N, Peoc'h K, Foncin JF, Destee A Brain 1999 Dec;122 ( Pt 12):2375-86.	Medline
Other point mutations / same article	List
Text source	HTML full text
Validation status	True positive

Relevant sentences:

D178N

Spectacular instances in which codon 129 determines the phenotype are fatal familial insomnia and a particular familial form of CJD , both linked to the point mutation at codon 178 of PRNP (D178N) (Goldfarb et al. , 1992b(image) )
Fatal familial insomnia and D178N CJD families carry the mutation on a methionine and a valine allele , respectively

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