Mutations

PSEN1 F386L

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Position: Chr14:73683862 T>C
dbSNP ID: rs1555358095
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: TTC to TCA
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 11

Findings

This mutation was found to segregate with dementia in a Japanese family (Yagi et al., 2014). The proband, who was diagnosed with probable AD, and her affected brother were identified as mutation carriers. The father and another brother were also affected, but their genotypes are unknown. The mother was unaffected at age 80 and did not carry the mutation. Ages at onset for the proband and her brother were 40 and 52 years, respectively.

The mutation was absent from 112 Japanese control subjects and 147 patients with diseases other than AD. It was also absent from the variant databases dbSNP137 and 1000 genomes.

Neuropathology
Unknown.

Biological Effect
The biological effects of the mutation are unknown, but it was predicted to be pathogenic by two function-prediction algorithms (SIFT, PolyPhen 2).

Last Updated: 07 Aug 2019

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References

Paper Citations

  1. . Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing. Neurobiol Aging. 2014 Jul;35(7):1780.e1-5. Epub 2014 Jan 25 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing. Neurobiol Aging. 2014 Jul;35(7):1780.e1-5. Epub 2014 Jan 25 PubMed.

Other mutations at this position

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