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