PSEN1 c.1348_1349delinsTG ;(p.D450C)

Variant ID: 14-73685941-GA-TG

NM_000021.3(PSEN1):c.1348_1349delinsTG;(p.D450C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2016-01-27

Variant appearance in text: PS1: D450C
PubMed Link: 26818522
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: D450C
PubMed Link: 25673856
Variant Present in the following documents:
  • Main text
View BVdb publication page



The C-terminal PAL motif and transmembrane domain 9 of presenilin 1 are involved in the formation of the catalytic pore of the gamma-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Sato, Chihiro C; Takagi, Shizuka S; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2008-06-11

Variant appearance in text: PS1: D450C
PubMed Link: 18550769
Variant Present in the following documents:
  • Main text
View BVdb publication page