Mutations

PSEN2 T18M

Overview

Pathogenicity: Parkinson's Disease : Unclear Pathogenicity
Clinical Phenotype: Parkinson's Disease
Reference Assembly: GRCh37 (105)
Position: Chr1:227069661 C>T
dbSNP ID: rs143061887
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: ACG to ATG
Reference Isoform: PSEN2 isoform 1 (448 aa)
Genomic Region: Exon 3

Findings

This mutation was identified in a German subject of European descent who developed symptoms of Parkinson’s disease at age 62 (Blauwendraat et al., 2015). He presented with typical PD without atypical features or symptoms of AD until at least age 70. No family history of PD was reported.

Neuropathology

Unknown.

Biological Effect

Unknown. This mutation is predicted to be pathogenic in silico.

Last Updated: 13 Nov 2015

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References

Paper Citations

  1. . Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. Neurobiol Aging. 2016 Jan;37:208.e11-7. Epub 2015 Sep 30 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. Neurobiol Aging. 2016 Jan;37:208.e11-7. Epub 2015 Sep 30 PubMed.

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