PRNP c.559C>T ;(p.H187Y)

Variant ID: 20-4680425-C-T

NM_000311.3(PRNP):c.559C>T;(p.H187Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.

Acta Neuropathologica Communications
Di Fede, Giuseppe G; Catania, Marcella M; Atzori, Cristiana C; Moda, Fabio F; Pasquali, Claudio C; Indaco, Antonio A; Grisoli, Marina M; Zuffi, Marta M; Guaita, Maria Cristina MC; Testi, Roberto R; Taraglio, Stefano S; Sessa, Maria M; Gusmaroli, Graziano G; Spinelli, Mariacarmela M; Salzano, Giulia G; Legname, Giuseppe G; Tarletti, Roberto R; Godi, Laura L; Pocchiari, Maurizio M; Tagliavini, Fabrizio F; Imperiale, Daniele D; Giaccone, Giorgio G
Publication Date: 2019-01-03

Variant appearance in text: PRNP: H187Y
PubMed Link: 30606247
Variant Present in the following documents:
  • Main text
  • 40478_2018_Article_656.pdf
View BVdb publication page



Searching for factors that distinguish disease-prone and disease-resistant prions via sequence analysis.

Bioinformatics And Biology Insights
Kedarisetti, Kanaka Durga KD; Dick, Scott S; Kurgan, Lukasz L
Publication Date: 2008-03-12

Variant appearance in text: CJD: H187Y
PubMed Link: 19812771
Variant Present in the following documents:
  • Main text
  • bbi-2008-133.pdf
View BVdb publication page