PSEN1 c.298_299delinsTG ;(p.I100C)

Variant ID: 14-73637715-AT-TG

NM_000021.3(PSEN1):c.298_299delinsTG;(p.I100C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Activation of γ-Secretase Trimming Activity by Topological Changes of Transmembrane Domain 1 of Presenilin 1.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Cai, Tetsuo T; Yonaga, Masahiro M; Tomita, Taisuke T
Publication Date: 2017-12-13

Variant appearance in text: PS1: I100C
PubMed Link: 29118109
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cooperative roles of hydrophilic loop 1 and the C-terminus of presenilin 1 in the substrate-gating mechanism of γ-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Takagi-Niidome, Shizuka S; Sasaki, Tomoki T; Osawa, Satoko S; Sato, Takeshi T; Morishima, Kanan K; Cai, Tetsuo T; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2015-02-11

Variant appearance in text: PS1: I100C
PubMed Link: 25673856
Variant Present in the following documents:
  • Main text
View BVdb publication page



Participation of transmembrane domain 1 of presenilin 1 in the catalytic pore structure of the γ-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Takagi, Shizuka S; Tominaga, Aya A; Sato, Chihiro C; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2010-11-24

Variant appearance in text: PS1: I100C
PubMed Link: 21106832
Variant Present in the following documents:
  • Main text
View BVdb publication page