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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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