PSEN1 c.1169G>T ;(p.S390I)

Variant ID: 14-73683873-G-T

NM_000021.3(PSEN1):c.1169G>T;(p.S390I)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences
Kim, Meewhi M; Bezprozvanny, Ilya I
Publication Date: 2021-12-18

Variant appearance in text: PS1: S390I
PubMed Link: 34948396
Variant Present in the following documents:
  • Main text
  • ijms-22-13600.pdf
View BVdb publication page



Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences
Kim, Meewhi M; Bezprozvanny, Ilya I
Publication Date: 2021-12-18

Variant appearance in text: PS1: S390I
PubMed Link: 34948396
Variant Present in the following documents:
  • Main text
  • ijms-22-13600.pdf
View BVdb publication page



Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications
Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH
Publication Date: 2019-07-12

Variant appearance in text: PSEN1: S390I
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

Frontiers In Aging Neuroscience
Li, Nuomin N; Liu, Kefu K; Qiu, Yunjie Y; Ren, Zehui Z; Dai, Rongji R; Deng, Yulin Y; Qing, Hong H
Publication Date: 2016

Variant appearance in text: PS1: S390I
PubMed Link: 27014058
Variant Present in the following documents:
  • Main text
  • fnagi-08-00051.pdf
View BVdb publication page



Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

European Journal Of Human Genetics : Ejhg
Nicolas, Gaël G; Wallon, David D; Charbonnier, Camille C; Quenez, Olivier O; Rousseau, Stéphane S; Richard, Anne-Claire AC; Rovelet-Lecrux, Anne A; Coutant, Sophie S; Le Guennec, Kilan K; Bacq, Delphine D; Garnier, Jean-Guillaume JG; Olaso, Robert R; Boland, Anne A; Meyer, Vincent V; Deleuze, Jean-François JF; Munter, Hans Markus HM; Bourque, Guillaume G; Auld, Daniel D; Montpetit, Alexandre A; Lathrop, Mark M; Guyant-Maréchal, Lucie L; Martinaud, Olivier O; Pariente, Jérémie J; Rollin-Sillaire, Adeline A; Pasquier, Florence F; Le Ber, Isabelle I; Sarazin, Marie M; Croisile, Bernard B; Boutoleau-Bretonnière, Claire C; Thomas-Antérion, Catherine C; Paquet, Claire C; Sauvée, Mathilde M; Moreaud, Olivier O; Gabelle, Audrey A; Sellal, François F; Ceccaldi, Mathieu M; Chamard, Ludivine L; Blanc, Frédéric F; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D
Publication Date: 2016-05

Variant appearance in text: PSEN1: 1169G>T; Ser390Ile
PubMed Link: 26242991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Changed membrane integration and catalytic site conformation are two mechanisms behind the increased Aβ42/Aβ40 ratio by presenilin 1 familial Alzheimer-linked mutations.

Febs Open Bio
Wanngren, Johanna J; Lara, Patricia P; Ojemalm, Karin K; Maioli, Silvia S; Moradi, Nasim N; Chen, Lu L; Tjernberg, Lars O LO; Lundkvist, Johan J; Nilsson, IngMarie I; Karlström, Helena H
Publication Date: 2014

Variant appearance in text: PS1: S390I
PubMed Link: 24918054
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of Alzheimer's disease.

Clinical Interventions In Aging
Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2014

Variant appearance in text: PSEN1: Ser390Ile
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page