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 A117V 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 A117V in PRIO_HUMAN

Point mutation:	A117V
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 117 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 117 in Mammalian prion proteins family Position 117 in Prion proteins (PRP, PRNP) family
Reference:	Neuronal and astrocytic responses involving the serotonergic system in human spongiform encephalopathies. Fraser E, McDonagh AM, Head M, Bishop M, Ironside JW, Mann DM Neuropathol Appl Neurobiol 2003 Oct;29(5):482-95.	Medline
Other point mutations / same article	List
Text source	abstract
Validation status	Not yet checked

Relevant sentences:

A117V

The relationships between the degree of cortical prion protein (PrP) deposition , tissue vacuolation and astrocytosis were studied in the frontal cortex of 27 cases of human spongiform encephalopathy , encompassing 13 cases of sporadic Creutzfeldt-Jakob disease (sCJD) , four cases of familial CJD (fCJD) (one owing to E200K mutation , one owing to 144 bp insertion , one owing to P102L mutation and one owing to A117V mutation) , five cases of iatrogenic CJD (iCJD) owing to growth hormone therapy and five cases of variant CJD (vCJD)

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