PSEN1 c.1312T>C ;(p.S438P)

Variant ID: 14-73685905-T-C

NM_000021.3(PSEN1):c.1312T>C;(p.S438P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Specific Mutations in Aph1 Cause γ-Secretase Activation.

International Journal Of Molecular Sciences
Watanabe, Hikari H; Yoshida, Chika C; Hidaka, Masafumi M; Ogawa, Tomohisa T; Tomita, Taisuke T; Futai, Eugene E
Publication Date: 2022-01-03

Variant appearance in text: PS1: S438P
PubMed Link: 35008932
Variant Present in the following documents:
  • Main text
  • ijms-23-00507.pdf
View BVdb publication page



Specific Mutations in Aph1 Cause γ-Secretase Activation.

International Journal Of Molecular Sciences
Watanabe, Hikari H; Yoshida, Chika C; Hidaka, Masafumi M; Ogawa, Tomohisa T; Tomita, Taisuke T; Futai, Eugene E
Publication Date: 2022-01-03

Variant appearance in text: PS1: S438P
PubMed Link: 35008932
Variant Present in the following documents:
  • Main text
  • ijms-23-00507.pdf
View BVdb publication page



Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

The Journal Of Biological Chemistry
Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ
Publication Date: 2021

Variant appearance in text: PS1: S438P
PubMed Link: 33571524
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Gamma-secretase composed of PS1/Pen2/Aph1a can cleave notch and amyloid precursor protein in the absence of nicastrin.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Zhao, Guojun G; Liu, Zhenyi Z; Ilagan, Ma Xenia G MX; Kopan, Raphael R
Publication Date: 2010-02-03

Variant appearance in text: PS1: S438P
PubMed Link: 20130175
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nicastrin is dispensable for gamma-secretase protease activity in the presence of specific presenilin mutations.

The Journal Of Biological Chemistry
Futai, Eugene E; Yagishita, Sosuke S; Ishiura, Shoichi S
Publication Date: 2009-05-08

Variant appearance in text: PS1: S438P
PubMed Link: 19254953
Variant Present in the following documents:
  • 13013.pdf
View BVdb publication page