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 E200K 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 E200K in PRIO_HUMAN

Point mutation:	E200K
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 200 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 200 in Mammalian prion proteins family Position 200 in Prion proteins (PRP, PRNP) family
Reference:	Familial Creutzfeldt-Jakob disease. Codon 200 prion disease in Libyan Jews. Meiner Z, Gabizon R, Prusiner SB Medicine (Baltimore) 1997 Jul;76(4):227-37.	Medline
Other point mutations / same article	List
Text source	abstract
Validation status	True positive

Relevant sentences:

E200K

Initially , this high incidence was attributed to infection via consumption of sheep brains or eyeballs , but a mutation at codon 200 in PRNP resulting in the substitution of lysine (K) for glutamate (E) , designated E200K , was identified in this population
The onset of fCJD (E200K) is age dependent and shows nearly complete penetrance by age 85 years
fCJD (E200K) has been transmitted to primates and transgenic mice , highlighting the need to address ethical and public health issues surrounding the possibility of human to human transmission.

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