PRNP c.638_639delinsGC ;(p.M213S)

Variant ID: 20-4680504-TG-GC

NM_000311.3(PRNP):c.638_639delinsGC;(p.M213S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Methionine oxidation within the prion protein.

Prion
Bettinger, John J; Ghaemmaghami, Sina S
Publication Date: 2020-12

Variant appearance in text: CJD: M213S
PubMed Link: 32744136
Variant Present in the following documents:
  • Main text
  • KPRN_14_1796898.pdf
View BVdb publication page



Impact of methionine oxidation as an initial event on the pathway of human prion protein conversion.

Prion
Elmallah, Mohammed I Y MI; Borgmeyer, Uwe U; Betzel, Christian C; Redecke, Lars L
Publication Date: 2013

Variant appearance in text: CJD: M213S
PubMed Link: 24121542
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dynamic diagnosis of familial prion diseases supports the β2-α2 loop as a universal interference target.

Plos One
Meli, Massimiliano M; Gasset, Maria M; Colombo, Giorgio G
Publication Date: 2011-04-28

Variant appearance in text: PRNP: M213S
PubMed Link: 21552571
Variant Present in the following documents:
  • Main text
  • pone.0019093.pdf
View BVdb publication page