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:	Fatal familial insomnia: clinical, neuropathological, and genetic description of a Spanish family. Tabernero C, Polo JM, Sevillano MD, Munoz R, Berciano J, Cabello A, Baez B, Ricoy JR, Carpizo R, Figols J, Cuadrado N, Claveria LE J Neurol Neurosurg Psychiatry 2000 Jun;68(6):774-7.	Medline
Other point mutations / same article	List
Text source	HTML and PDF full texts
Validation status	True positive

Relevant sentences:

D178N

DNA was obtained from leucocytes and brain tissue and the prion protein open reading frame (864 bp) was amplified by the polymerase chain reaction (PCR) as described elsewhere.13 The restriction endonuclease Tth 111 I was used for detection of the D178N mutation and the polymorphism at codon 129 was analysed by digestion with NspI
DNA was obtained from leucocytes and brain tissue and the prion protein open reading frame (864 bp) was amplified by the polymerase chain reaction (PCR) as described elsewhere.13 The restriction endonuclease Tth J Neurol Neurosurg Psychiatry 2000 ; 68:774777 Neurology Section , Hospital General de Segovia , ctra de Ávila sn , 40001 Segovia , Spain C Tabernero M D Sevillano L E Claveria Neurology Service , University Hospital 'Marqués de Valdecilla' , Santander , Spain J M Polo R Muñoz J Berciano Neuropathology Section , University Hospital '12º de Octubre' , Madrid , Spain A Cabello B Báez J R Ricoy Clinical Neurophysiology Service , University Hospital 'Marqués de Valdecilla' , Santander , Spain R Carpizo Pathology Service , University Hospital 'Marqués de Valdecilla' , Santander , Spain J Figols Health Institute 'Carlos III' , Madrid , Spain N Cuadrado Correspondence to: Dr César Tabernero ctabernerog@meditex.es Received 13 August 1999 and in final form 3 February 2000 Accepted 9 February 2000 111 I was used for detection of the D178N mutation and the polymorphism at codon 129 was analysed by digestion with NspI
8 McLean CA , Storey E , Gardner RJM , et al. The D178N (cis-129M) 'fatal familial insomnia' mutation associated with diverse clinicopathological phenotypes in an Australian kindred
9 Zerr I , Giese A , Windl O , et al. Phenotypic variability in fatal familial insomnia (D178N-129M) genotype

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