PSEN1 c.389T>C ;(p.L130P)

Variant ID: 14-73640324-T-C

NM_000021.3(PSEN1):c.389T>C;(p.L130P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: S182: L130P
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Cooperative roles of hydrophilic loop 1 and the C-terminus of presenilin 1 in the substrate-gating mechanism of γ-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Takagi-Niidome, Shizuka S; Sasaki, Tomoki T; Osawa, Satoko S; Sato, Takeshi T; Morishima, Kanan K; Cai, Tetsuo T; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2015-02-11

Variant appearance in text: PS1: L130P
PubMed Link: 25673856
Variant Present in the following documents:
  • Main text
View BVdb publication page