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