PSEN1 c.1213_1215delinsCAA ;(p.N405Q)

Variant ID: 14-73683917-AAC-CAA

NM_000021.3(PSEN1):c.1213_1215delinsCAA;(p.N405Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Changed membrane integration and catalytic site conformation are two mechanisms behind the increased Aβ42/Aβ40 ratio by presenilin 1 familial Alzheimer-linked mutations.

Febs Open Bio
Wanngren, Johanna J; Lara, Patricia P; Ojemalm, Karin K; Maioli, Silvia S; Moradi, Nasim N; Chen, Lu L; Tjernberg, Lars O LO; Lundkvist, Johan J; Nilsson, IngMarie I; Karlström, Helena H
Publication Date: 2014

Variant appearance in text: PS1: N405Q
PubMed Link: 24918054
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page