PSEN1 c.496_497delinsGC ;(p.L166A)

Variant ID: 14-73653576-CT-GC

NM_000021.3(PSEN1):c.496_497delinsGC;(p.L166A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Abeta42-driven cerebral amyloidosis in transgenic mice reveals early and robust pathology.

Embo Reports
Radde, Rebecca R; Bolmont, Tristan T; Kaeser, Stephan A SA; Coomaraswamy, Janaky J; Lindau, Dennis D; Stoltze, Lars L; Calhoun, Michael E ME; Jäggi, Fabienne F; Wolburg, Hartwig H; Gengler, Simon S; Haass, Christian C; Ghetti, Bernardino B; Czech, Christian C; Hölscher, Christian C; Mathews, Paul M PM; Jucker, Mathias M
Publication Date: 2006-09

Variant appearance in text: PS1: L166A
PubMed Link: 16906128
Variant Present in the following documents:
  • Main text
View BVdb publication page



Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Moehlmann, Tobias T; Winkler, Edith E; Xia, Xuefeng X; Edbauer, Dieter D; Murrell, Jill J; Capell, Anja A; Kaether, Christoph C; Zheng, Hui H; Ghetti, Bernardino B; Haass, Christian C; Steiner, Harald H
Publication Date: 2002-06-11

Variant appearance in text: PS1: L166A
PubMed Link: 12048239
Variant Present in the following documents:
  • Main text
View BVdb publication page