PRNP c.385_386delinsCC ;(p.M129P)

Variant ID: 20-4680251-AT-CC

NM_000311.3(PRNP):c.385_386delinsCC;(p.M129P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Is the prevalent human prion protein 129M/V mutation a living fossil from a Paleolithic panzootic superprion pandemic?

Prion
Nyström, Sofie S; Hammarström, Per P
Publication Date: 2014

Variant appearance in text: CJD: M129P
PubMed Link: 24398570
Variant Present in the following documents:
  • Main text
  • kprn-08-01-10927601.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: M129P
PubMed Link: 22669942
Variant Present in the following documents:
  • Main text
View BVdb publication page