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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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