PSEN1 c.1149G>C ;(p.L383F)

Variant ID: 14-73683853-G-C

NM_000021.3(PSEN1):c.1149G>C;(p.L383F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structural and Functional Determinants of gamma-Secretase, an Intramembrane Protease Implicated in Alzheimer's Disease.

Current Genomics
Fraering, Patrick C PC
Publication Date: 2007-12

Variant appearance in text: PS1: L383F
PubMed Link: 19415127
Variant Present in the following documents:
  • Main text
  • CG-8-531.pdf
View BVdb publication page



The GxGD motif of presenilin contributes to catalytic function and substrate identification of gamma-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Yamasaki, Aya A; Eimer, Stefan S; Okochi, Masayasu M; Smialowska, Agata A; Kaether, Christoph C; Baumeister, Ralf R; Haass, Christian C; Steiner, Harald H
Publication Date: 2006-04-05

Variant appearance in text: PS1: L383F
PubMed Link: 16597736
Variant Present in the following documents:
  • Main text
View BVdb publication page