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PSEN1 c.1148_1149delinsGT ;(p.L383C)
Variant ID: 14-73683852-TG-GT
NM_000021.3(
PSEN1
):c.1148_1149delinsGT;(p.L383C)
This variant was identified in 8 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
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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: L383C
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: L383C
PubMed Link:
26818522
Variant Present in the following documents:
Main text
View BVdb publication page
Allosteric regulation of γ-secretase activity by a phenylimidazole-type γ-secretase modulator.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Takeo, Koji K; Tanimura, Shun S; Shinoda, Takehiro T; Osawa, Satoko S; Zahariev, Ivan Krasmirov IK; Takegami, Naoki N; Ishizuka-Katsura, Yoshiko Y; Shinya, Naoko N; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Ohsawa, Noboru N; Kimura-Someya, Tomomi T; Shirouzu, Mikako M; Yokoshima, Satoshi S; Yokoyama, Shigeyuki S; Fukuyama, Tohru T; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2014-07-22
Variant appearance in text: PS1: L383C
PubMed Link:
25009180
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: L383C
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: L383C
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: L383C
PubMed Link:
21106832
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: L383C
PubMed Link:
18550769
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: L383C
PubMed Link:
17108181
Variant Present in the following documents:
Main text
View BVdb publication page