PSEN1 c.1304T>G ;(p.L435R)

Variant ID: 14-73685897-T-G

NM_000021.3(PSEN1):c.1304T>G;(p.L435R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.

The Journal Of Biological Chemistry
Heilig, Elizabeth A EA; Xia, Weiming W; Shen, Jie J; Kelleher, Raymond J RJ
Publication Date: 2010-07-16

Variant appearance in text: PS1: L435R
PubMed Link: 20460383
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: L435R
PubMed Link: 19415127
Variant Present in the following documents:
  • Main text
  • CG-8-531.pdf
View BVdb publication page