PSEN1 c.733_734delinsTG ;(p.T245C)

Variant ID: 14-73659536-AC-TG

NM_000021.3(PSEN1):c.733_734delinsTG;(p.T245C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Revealing a Novel Otubain-Like Enzyme from Leishmania infantum with Deubiquitinating Activity toward K48-Linked Substrate.

Frontiers In Chemistry
Azevedo, Clênia S CS; Guido, Bruna C BC; Pereira, Jhonata L JL; Nolasco, Diego O DO; Corrêa, Rafael R; Magalhães, Kelly G KG; Motta, Flávia N FN; Santana, Jaime M JM; Grellier, Philippe P; Bastos, Izabela M D IM
Publication Date: 2017

Variant appearance in text: S182: T245C
PubMed Link: 28386537
Variant Present in the following documents:
  • Main text
  • fchem-05-00013.pdf
View BVdb publication page



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: T245C
PubMed Link: 21531718
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure of the catalytic pore of gamma-secretase probed by the accessibility of substituted cysteines.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Sato, Chihiro C; Morohashi, Yuichi Y; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2006-11-15

Variant appearance in text: PS1: T245C
PubMed Link: 17108181
Variant Present in the following documents:
  • Main text
View BVdb publication page