PSEN1 c.395_396delinsGT ;(p.S132C)

Variant ID: 14-73640330-CA-GT

NM_000021.3(PSEN1):c.395_396delinsGT;(p.S132C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Hollow core optical fibres with comparable attenuation to silica fibres between 600 and 1100 nm.

Nature Communications
Sakr, Hesham H; Chen, Yong Y; Jasion, Gregory T GT; Bradley, Thomas D TD; Hayes, John R JR; Mulvad, Hans Christian H HCH; Davidson, Ian A IA; Numkam Fokoua, Eric E; Poletti, Francesco F
Publication Date: 2020-11-27

Variant appearance in text: PS1: S132C
PubMed Link: 33247139
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_19910.pdf
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: S132C
PubMed Link: 25673856
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional analysis of the transmembrane domains of presenilin 1: participation of transmembrane domains 2 and 6 in the formation of initial substrate-binding site of gamma-secretase.

The Journal Of Biological Chemistry
Watanabe, Naoto N; Image Image, Image Image II; Takagi, Shizuka S; Image Image, Image Image II; Tominaga, Aya A; Image Image, Image I; Tomita, Taisuke T; Image Image, Image Image II; Iwatsubo, Takeshi T; Image Image, Image I
Publication Date: 2010-06-25

Variant appearance in text: PS1: S132C
PubMed Link: 20418378
Variant Present in the following documents:
  • Main text
View BVdb publication page