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 D202N 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 D202N in PRIO_HUMAN

Point mutation:	D202N
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 202 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 202 in Mammalian prion proteins family Position 202 in Prion proteins (PRP, PRNP) family
Reference:	Identification of a conserved N-capping box important for the structural autonomy of the prion alpha 3-helix: the disease associated D202N mutation destabilizes the helical conformation. Gallo M, Paludi D, Cicero DO, Chiovitti K, Millo E, Salis A, Damonte G, Corsaro A, Thellung S, Schettini G, Melino S, Florio T, Paci M, Aceto A Int J Immunopathol Pharmacol 2005 Jan-Mar;18(1):95-112.	Medline
Other point mutations / same article	List
Text source	abstract
Validation status	Not yet checked

Relevant sentences:

D202N

In particular the D202N capping mutation almost completely destabilizes the isolated alpha 3 peptide
While it is well known that the D202N substitution is associated with a GSS disease , the possible structural basis of this fatal pathology has never been investigated
We propose that a lower alpha 3-helical propensity leading to a major destabilization of the PrPc molecule initiates the pathogenic process associated with D202N capping mutation.

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