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Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction

Young Chul Youn1, Eva Bagyinszky2, HyeRyoun Kim3, Byung-Ok Choi4, Seong Soo An2* and SangYun Kim5*

Author Affiliations

1 Department of Neurology, Chung-Ang University College of Medicine, Seoul, South Korea

2 Department of Bionano Technology, Gachon Bionano Research Institute, Gachon University, Seongnam-si, South Korea

3 Department of Laboratory Medicine, Chung-Ang University College of Medicine, Seoul, South Korea

4 Department of Neurology, Samsung Medical Centre, Sungkyunkwan University, Seoul, South Korea

5 Department of Neurology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, South Korea

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BMC Neurology 2014, 14:105  doi:10.1186/1471-2377-14-105

Published: 15 May 2014



PSEN2 mutations are rare variants, and fewer than 30 different PSEN2 mutations have been found. So far, it has not been reported in Asia.

Case presentation

PSEN2 mutation at codon 214 for predicting a valine to leucine substitution was found in a 70-year-old woman, who showed a dementia of the Alzheimer type. We did not find the mutation in 614 control chromosomes. We also predicted the structures of presenilin 2 protein with native Val 214 residue and Leu 214 mutation, which revealed significant structural changes in the region.


It could be a novel mutation verified with structural prediction in a patient with Alzheimer’s disease.

Alzheimer’s disease; Presenilin 2 mutation; Presenilin 2 protein structure; Novel mutation; Structural prediction