SNCA c.148C>G ;(p.H50D)

Variant ID: 4-90749309-G-C

NM_000345.3(SNCA):c.148C>G;(p.H50D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The H50Q mutation induces a 10-fold decrease in the solubility of α-synuclein.

The Journal Of Biological Chemistry
Porcari, Riccardo R; Proukakis, Christos C; Waudby, Christopher A CA; Bolognesi, Benedetta B; Mangione, P Patrizia PP; Paton, Jack F S JF; Mullin, Stephen S; Cabrita, Lisa D LD; Penco, Amanda A; Relini, Annalisa A; Verona, Guglielmo G; Vendruscolo, Michele M; Stoppini, Monica M; Tartaglia, Gian Gaetano GG; Camilloni, Carlo C; Christodoulou, John J; Schapira, Anthony H V AH; Bellotti, Vittorio V
Publication Date: 2015-01-23

Variant appearance in text: SNCA: H50D
PubMed Link: 25505181
Variant Present in the following documents:
  • Main text
  • zbc2395.pdf
View BVdb publication page



Residue histidine 50 plays a key role in protecting α-synuclein from aggregation at physiological pH.

The Journal Of Biological Chemistry
Chi, Ying-Chih YC; Armstrong, Geoffrey S GS; Jones, David N M DN; Eisenmesser, Elan Z EZ; Liu, Chang-Wei CW
Publication Date: 2014-05-30

Variant appearance in text: SNCA: H50D
PubMed Link: 24742669
Variant Present in the following documents:
  • Main text
View BVdb publication page