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:	Prions. Prusiner SB Proc Natl Acad Sci U S A 1998 Nov 10;95(23):13363-83.	Medline
Other point mutations / same article	List
Text source	HTML and PDF full texts
Validation status	True positive

Relevant sentences:

D178N

Weiss Recombinant human prion protein mutants huPrP D178N / M129 (FFI) and huPrP+9OR (fCJD) reveal proteinase K resistance J
vCJD Humans Infection from bovine prions? fCJD Humans Germ-line mutations in PrP gene GSS Humans Germ-line mutations in PrP gene FFI Humans Germ-line mutation in PrP gene (D178N , M129) sCJD Humans Somatic mutation or spontaneous conversion of PrPC into PrPSc? FSI Humans Somatic mutation or spontaneous conversion of PrPC into PrPSc? Scrapie Sheep Infection in genetically susceptible sheep BSE Cattle Infection with prion-contaminated MBM TME Mink Infection with prions from sheep or cattle CWD Mule deer , elk Unknown FSE Cats Infection with prion-contaminated bovine tissues or MBM Exotic ungulate encephalopathy Greater kudu , nyala , oryx Infection with prion-contaminated MBM iCJD , iatrogenic CJD ; vCJD , variant CJD ; fCJD , familial CJD ; sCJD , sporadic CJD ; GSS , GerstmannStra¨usslerSheinker disease ; FFI , fatal familial insomnia ; FSI , fatal sporadic insomnia ; BSE , bovine spongiform encephalopathy ; TME , transmissible mink encephalopathy ; CWD , chronic wasting disease ; FSE , feline spongiform encephalopathy ; HGH , human growth hormone ; MBM , meat and bone meal
Distinct prion strains generated in humans with inherited prion diseases and transmitted to Tg mice Inoculum Host species Host PrP genotype Incubation time , days (n n0) PrPSc , kDa None Human FFI(D178N , M129) 19 FFI Mouse Tg(MHu2M) 206 7 (7 7) 19 FFI -->Tg(MHu2M) Mouse Tg(MHu2M) 136 1 (6 6) 19 None Human fCJD(E200K) 21 fCJD Mouse Tg(MHu2M) 170 2 (10 10) 21 fCJD -->Tg(MHu2M) Mouse Tg(MHu2M) 167 --> (15 15) 21 Data are from ref

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