PRNP c.659G>A ;(p.R220K)

Variant ID: 20-4680525-G-A

NM_000311.3(PRNP):c.659G>A;(p.R220K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The landscape of the prion protein's structural response to mutation revealed by principal component analysis of multiple NMR ensembles.

Plos Computational Biology
Gendoo, Deena M A DM; Harrison, Paul M PM
Publication Date: 2012

Variant appearance in text: CJD: R220K
PubMed Link: 22912570
Variant Present in the following documents:
  • Main text
  • pcbi.1002646.pdf
View BVdb publication page



Influence of pH on the human prion protein: insights into the early steps of misfolding.

Biophysical Journal
van der Kamp, Marc W MW; Daggett, Valerie V
Publication Date: 2010-10-06

Variant appearance in text: CJD: R220K
PubMed Link: 20923664
Variant Present in the following documents:
  • Main text
View BVdb publication page



NMR structure of the human prion protein with the pathological Q212P mutation reveals unique structural features.

Plos One
Ilc, Gregor G; Giachin, Gabriele G; Jaremko, Mariusz M; Jaremko, Łukasz Ł; Benetti, Federico F; Plavec, Janez J; Zhukov, Igor I; Legname, Giuseppe G
Publication Date: 2010-07-22

Variant appearance in text: CJD: R220K
PubMed Link: 20661422
Variant Present in the following documents:
  • Main text
  • pone.0011715.pdf
View BVdb publication page