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 M129M 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 M129M in PRIO_HUMAN

Point mutation:	M129M
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 129 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 129 in Mammalian prion proteins family Position 129 in Prion proteins (PRP, PRNP) family
Reference:	Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob disease. Jarius C, Kovacs GG, Belay G, Hainfellner JA, Mitrova E, Budka H Acta Neuropathol (Berl) 2003 May;105(5):449-54.	Medline
Other point mutations / same article	List
Text source	abstract
Validation status	True positive

Relevant sentences:

M129M

While the diffuse / synaptic and patchy / perivacuolar PrP deposits and PrP plaques have a similar distribution and correlation with the genotype at codon 129 as in sporadic CJD , an additional peculiar PrP immunostaining pattern occurs in the cerebellum in 81% E200K mutation brains including 93% of M129M , 71% of M129V , but not in the single V129V case

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