PRNP c.385_386delinsTG ;(p.M129W)

Variant ID: 20-4680251-AT-TG

NM_000311.3(PRNP):c.385_386delinsTG;(p.M129W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Generic amyloidogenicity of mammalian prion proteins from species susceptible and resistant to prions.

Scientific Reports
Nyström, Sofie S; Hammarström, Per P
Publication Date: 2015-05-11

Variant appearance in text: CJD: M129W
PubMed Link: 25960067
Variant Present in the following documents:
  • Main text
  • srep10101.pdf
View BVdb publication page



Multiple substitutions of methionine 129 in human prion protein reveal its importance in the amyloid fibrillation pathway.

The Journal Of Biological Chemistry
Nyström, Sofie S; Mishra, Rajesh R; Hornemann, Simone S; Aguzzi, Adriano A; Nilsson, K Peter R KP; Hammarström, Per P
Publication Date: 2012-07-27

Variant appearance in text: PRNP: M129W
PubMed Link: 22669942
Variant Present in the following documents:
  • Main text
View BVdb publication page