SNCA c.307_308delinsGC ;(p.N103A)

Variant ID: 4-90650427-TT-GC

NM_000345.3(SNCA):c.307_308delinsGC;(p.N103A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


α-Synuclein stimulation of monoamine oxidase-B and legumain protease mediates the pathology of Parkinson's disease.

The Embo Journal
Kang, Seong Su SS; Ahn, Eun Hee EH; Zhang, Zhentao Z; Liu, Xia X; Manfredsson, Fredric P FP; Sandoval, Ivette M IM; Dhakal, Susov S; Iuvone, P Michael PM; Cao, Xuebing X; Ye, Keqiang K
Publication Date: 2018-06-15

Variant appearance in text: SNCA: N103A
PubMed Link: 29769405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Asparagine endopeptidase cleaves α-synuclein and mediates pathologic activities in Parkinson's disease.

Nature Structural & Molecular Biology
Zhang, Zhentao Z; Kang, Seong Su SS; Liu, Xia X; Ahn, Eun Hee EH; Zhang, Zhaohui Z; He, Li L; Iuvone, P Michael PM; Duong, Duc M DM; Seyfried, Nicholas T NT; Benskey, Matthew J MJ; Manfredsson, Fredric P FP; Jin, Lingjing L; Sun, Yi E YE; Wang, Jian-Zhi JZ; Ye, Keqiang K
Publication Date: 2017-08

Variant appearance in text: SNCA: N103A
PubMed Link: 28671665
Variant Present in the following documents:
  • Main text
View BVdb publication page