PSEN1 c.1158C>G ;(p.F386L)

Variant ID: 14-73683862-C-G

NM_000021.3(PSEN1):c.1158C>G;(p.F386L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.

Brain Communications
Ringman, John M JM; Dorrani, Naghmeh N; Fernández, Sara Gutiérrez SG; Signer, Rebecca R; Martinez-Agosto, Julian J; Lee, Hane H; Douine, Emilie D ED; Qiao, Yuchuan Y; Shi, Yonggang Y; D'Orazio, Lina L; Pawar, Sanjay S; Robbie, Leah L; Kashani, Amir H AH; Singer, Maxwell M; Byers, Joshua T JT; Magaki, Shino S; Guzman, Sam S; Sagare, Abhay A; Zlokovic, Berislav B; Cederbaum, Stephen S; Nelson, Stanley S; Sheikh-Bahaei, Nasim N; Chui, Helena C HC; Chávez-Gutiérrez, Lucía L; Vinters, Harry V HV
Publication Date: 2023

Variant appearance in text: PSEN1: F386L
PubMed Link: 36895955
Variant Present in the following documents:
  • Main text
  • fcad030.pdf
View BVdb publication page



A Novel Probable Pathogenic PSEN2 Mutation p.Phe369Ser Associated With Early-Onset Alzheimer's Disease in a Chinese Han Family: A Case Report.

Frontiers In Aging Neuroscience
Wan, Ke K; Ma, Zhen-Juan ZJ; Zhou, Xia X; Zhang, Yi-Mei YM; Yu, Xian-Feng XF; You, Meng-Zhe MZ; Huang, Chao-Juan CJ; Zhang, Wei W; Sun, Zhong-Wu ZW
Publication Date: 2021

Variant appearance in text: PSEN1: Phe386Leu
PubMed Link: 34366829
Variant Present in the following documents:
  • Main text
  • fnagi-13-710075.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PSEN1: F386L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: PSEN1: F386L
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page