PSEN1 c.1315_1316delinsTG ;(p.I439C)

Variant ID: 14-73685908-AT-TG

NM_000021.3(PSEN1):c.1315_1316delinsTG;(p.I439C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.

The Journal Of Biological Chemistry
Nelson, Omar O; Supnet, Charlene C; Tolia, Alexandra A; Horré, Katrien K; De Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2011-06-24

Variant appearance in text: PS1: I439C
PubMed Link: 21531718
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: I439C
PubMed Link: 18550769
Variant Present in the following documents:
  • Main text
View BVdb publication page