PSEN1 c.1175T>C ;(p.L392P)

Variant ID: 14-73683879-T-C

NM_000021.3(PSEN1):c.1175T>C;(p.L392P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: PSEN1: 1175T>C; Leu392Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: PSEN1: 1175T>C; Leu392Pro
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
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: L392P
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: L392P
PubMed Link: 27014058
Variant Present in the following documents:
  • Main text
  • fnagi-08-00051.pdf
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: L392P
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: Leu392Pro
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page