PSEN1 c.1323T>A ;(p.F441L)

Variant ID: 14-73685916-T-A

NM_000021.3(PSEN1):c.1323T>A;(p.F441L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: F441L
PubMed Link: 33571524
Variant Present in the following documents:
  • Main text
  • main.pdf
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: F441L
PubMed Link: 19254953
Variant Present in the following documents:
  • 13013.pdf
View BVdb publication page