PRNP c.484T>C ;(p.Y162H)

Variant ID: 20-4680350-T-C

NM_000311.3(PRNP):c.484T>C;(p.Y162H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles.

Plos Pathogens
Mercer, Robert C C RCC; Daude, Nathalie N; Dorosh, Lyudmyla L; Fu, Ze-Lin ZL; Mays, Charles E CE; Gapeshina, Hristina H; Wohlgemuth, Serene L SL; Acevedo-Morantes, Claudia Y CY; Yang, Jing J; Cashman, Neil R NR; Coulthart, Michael B MB; Pearson, Dawn M DM; Joseph, Jeffrey T JT; Wille, Holger H; Safar, Jiri G JG; Jansen, Gerard H GH; Stepanova, Maria M; Sykes, Brian D BD; Westaway, David D
Publication Date: 2018-01

Variant appearance in text: CJD: Y162H
PubMed Link: 29338055
Variant Present in the following documents:
  • Main text
  • ppat.1006826.pdf
View BVdb publication page



Solution structure and dynamics of the I214V mutant of the rabbit prion protein.

Plos One
Wen, Yi Y; Li, Jun J; Xiong, Minqian M; Peng, Yu Y; Yao, Wenming W; Hong, Jing J; Lin, Donghai D
Publication Date: 2010-10-07

Variant appearance in text: CJD: Y162H
PubMed Link: 20949107
Variant Present in the following documents:
  • Main text
View BVdb publication page