PSEN1 c.743T>G ;(p.L248R)

Variant ID: 14-73659546-T-G

NM_000021.3(PSEN1):c.743T>G;(p.L248R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.

Frontiers In Molecular Biosciences
Soto-Ospina, Alejandro A; Araque Marín, Pedronel P; Bedoya, Gabriel G; Sepulveda-Falla, Diego D; Villegas Lanau, Andrés A
Publication Date: 2021

Variant appearance in text: PS1: Leu248Arg
PubMed Link: 34150846
Variant Present in the following documents:
  • Main text
  • fmolb-08-649990.pdf
View BVdb publication page



The Links between Cardiovascular Diseases and Alzheimer's Disease.

Current Neuropharmacology
Leszek, Jerzy J; Mikhaylenko, Elizaveta V EV; Belousov, Dmitrii M DM; Koutsouraki, Efrosini E; Szczechowiak, Katarzyna K; Kobusiak-Prokopowicz, Małgorzata M; Mysiak, Andrzej A; Diniz, Breno Satler BS; Somasundaram, Siva G SG; Kirkland, Cecil E CE; Aliev, Gjumrakch G
Publication Date: 2021

Variant appearance in text: PS1: L248R
PubMed Link: 32727331
Variant Present in the following documents:
  • Main text
  • CN-19-152.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: L248R
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y
Publication Date: 2017-01-24

Variant appearance in text: PSEN1: L248R
PubMed Link: 27930341
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: PSEN1: L248R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



An atomic structure of human γ-secretase.

Nature
Bai, Xiao-Chen XC; Yan, Chuangye C; Yang, Guanghui G; Lu, Peilong P; Ma, Dan D; Sun, Linfeng L; Zhou, Rui R; Scheres, Sjors H W SHW; Shi, Yigong Y
Publication Date: 2015-09-10

Variant appearance in text: PS1: L248R
PubMed Link: 26280335
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: Leu248Arg
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.

Neurobiology Of Aging
Guerreiro, Rita Joao RJ; Baquero, Miquel M; Blesa, Rafael R; Boada, Mercè M; Brás, Jose Miguel JM; Bullido, Maria J MJ; Calado, Ana A; Crook, Richard R; Ferreira, Carla C; Frank, Ana A; Gómez-Isla, Teresa T; Hernández, Isabel I; Lleó, Alberto A; Machado, Alvaro A; Martínez-Lage, Pablo P; Masdeu, José J; Molina-Porcel, Laura L; Molinuevo, José L JL; Pastor, Pau P; Pérez-Tur, Jordi J; Relvas, Rute R; Oliveira, Catarina Resende CR; Ribeiro, Maria Helena MH; Rogaeva, Ekaterina E; Sa, Alfredo A; Samaranch, Lluís L; Sánchez-Valle, Raquel R; Santana, Isabel I; Tàrraga, Lluís L; Valdivieso, Fernando F; Singleton, Andrew A; Hardy, John J; Clarimón, Jordi J
Publication Date: 2010-05

Variant appearance in text: PSEN1: 743T>G; L248R
PubMed Link: 18667258
Variant Present in the following documents:
  • Main text
View BVdb publication page