SNCA c.373T>G ;(p.Y125D)

Variant ID: 4-90650362-A-C

NM_000345.3(SNCA):c.373T>G;(p.Y125D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Systematic comparison of the effects of alpha-synuclein mutations on its oligomerization and aggregation.

Plos Genetics
Lázaro, Diana F DF; Rodrigues, Eva F EF; Langohr, Ramona R; Shahpasandzadeh, Hedieh H; Ribeiro, Thales T; Guerreiro, Patrícia P; Gerhardt, Ellen E; Kröhnert, Katharina K; Klucken, Jochen J; Pereira, Marcos D MD; Popova, Blagovesta B; Kruse, Niels N; Mollenhauer, Brit B; Rizzoli, Silvio O SO; Braus, Gerhard H GH; Danzer, Karin M KM; Outeiro, Tiago F TF
Publication Date: 2014-11

Variant appearance in text: SNCA: Y125D
PubMed Link: 25393002
Variant Present in the following documents:
  • Main text
  • pgen.1004741.pdf
View BVdb publication page



Dopamine-mediated oxidation of methionine 127 in α-synuclein causes cytotoxicity and oligomerization of α-synuclein.

Plos One
Nakaso, Kazuhiro K; Tajima, Naoko N; Ito, Satoru S; Teraoka, Mari M; Yamashita, Atsushi A; Horikoshi, Yosuke Y; Kikuchi, Daisuke D; Mochida, Shinsuke S; Nakashima, Kenji K; Matsura, Tatsuya T
Publication Date: 2013

Variant appearance in text: PARK4: Y125D
PubMed Link: 23457458
Variant Present in the following documents:
  • Main text
  • pone.0055068.pdf
View BVdb publication page