Mutations

PSEN1 M233L (A>T)

Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659500 A>T
dbSNP ID: rs63751287
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: ATG to TTG

Findings

Comments

  1. This paper adds another example for the possible presence of a loss-of-function phenotype of PS mutations. In my view, (relative) elevation of Aβ42 is a gain-of-function phenotype commonly shared by most of the mutations, although the mechanism behind it may be a kind of loss-of-function type, that is, downregulation of Aβ40 generation. The PS mutations described in this paper and elsewhere, some of which do not even produce all the AD pathologies, seem to belong to a subclass of the entire set of pathogenic PS mutations.

    View all comments by Takaomi Saido

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References

No Available References

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations. Am J Alzheimers Dis Other Demen. 2006 Aug-Sep;21(4):281-6. PubMed.

Other mutations at this position

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