PSEN1 c.496_497delinsTG ;(p.L166C)

Variant ID: 14-73653576-CT-TG

NM_000021.3(PSEN1):c.496_497delinsTG;(p.L166C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Conformational Dynamics of Transmembrane Domain 3 of Presenilin 1 Is Associated with the Trimming Activity of γ-Secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Cai, Tetsuo T; Morishima, Kanan K; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Tomita, Taisuke T
Publication Date: 2019-10-23

Variant appearance in text: PS1: L166C
PubMed Link: 31527118
Variant Present in the following documents:
  • Main text
View BVdb publication page



Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

The Journal Of Biological Chemistry
Kretner, Benedikt B; Fukumori, Akio A; Gutsmiedl, Amelie A; Page, Richard M RM; Luebbers, Thomas T; Galley, Guido G; Baumann, Karlheinz K; Haass, Christian C; Steiner, Harald H
Publication Date: 2011-04-29

Variant appearance in text: PS1: L166C
PubMed Link: 21357415
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: L166C
PubMed Link: 12048239
Variant Present in the following documents:
  • Main text
View BVdb publication page