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Article

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

BMC neurology - 15 May 2014

Youn Young Chul, Bagyinszky Eva, Kim HyeRyoun, Choi Byung-Ok, An Seong Soo, Kim SangYun

Abstract excerpt

BACKGROUND: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24885952
DOI: 10.1186/1471-2377-14-105
PMCID: PMC4036836

Genes

PSEN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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