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PSEN1 c.1303_1304delinsTG ;(p.L435C)
Variant ID: 14-73685896-CT-TG
NM_000021.3(
PSEN1
):c.1303_1304delinsTG;(p.L435C)
This variant was identified in 7 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Conformational Dynamics of Transmembrane Domain 3 of Presenilin 1 Is Associated with the Trimming Activity of γ-Secretase.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Cai, Tetsuo T; Morishima, Kanan K; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Tomita, Taisuke T
Publication Date: 2019-10-23
Variant appearance in text: PS1: L435C
PubMed Link:
31527118
Variant Present in the following documents:
Main text
View BVdb publication page
Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2016-01-27
Variant appearance in text: PS1: L435C
PubMed Link:
26818522
Variant Present in the following documents:
Main text
View BVdb publication page
Contribution of the γ-secretase subunits to the formation of catalytic pore of presenilin 1 protein.
The Journal Of Biological Chemistry
Takeo, Koji K; Watanabe, Naoto N; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2012-07-27
Variant appearance in text: PS1: L435C
PubMed Link:
22689582
Variant Present in the following documents:
Main text
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: L435C
PubMed Link:
21531718
Variant Present in the following documents:
Main text
View BVdb publication page
Participation of transmembrane domain 1 of presenilin 1 in the catalytic pore structure of the γ-secretase.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Takagi, Shizuka S; Tominaga, Aya A; Sato, Chihiro C; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2010-11-24
Variant appearance in text: PS1: L435C
PubMed Link:
21106832
Variant Present in the following documents:
Main text
View BVdb publication page
A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.
The Journal Of Biological Chemistry
Heilig, Elizabeth A EA; Xia, Weiming W; Shen, Jie J; Kelleher, Raymond J RJ
Publication Date: 2010-07-16
Variant appearance in text: PS1: L435C
PubMed Link:
20460383
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: L435C
PubMed Link:
18550769
Variant Present in the following documents:
Main text
View BVdb publication page