Mutations

PSEN1 K311R

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73673157 A>G
dbSNP ID: rs115865530
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: AAA to AGA
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 9

Findings

This mutation was identified in two Chinese families with late-onset AD (Dong et al., 2017). In both cases, the probands were men in their 70s who developed progressive memory decline. In addition, both had a deceased parent who had suffered from similar cognitive impairment at a similar age. The mutation was absent from one cognitively normal family member (unspecified age), 100 normal individuals, and 100 unrelated patients with late-onset, sporadic AD.

Neuropathology
Unknown.

Biological Effect
Increased Aβ42 and reduced Aβ40 levels, resulting in an increased Aβ42:Aβ40 ratio, were detected in the conditioned media of cultured cells transfected with plasmids carrying the K311R mutation. Phosphorylated tau levels were also increased in cell lysates.

Last Updated: 28 Feb 2019

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References

Paper Citations

  1. . A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation. J Alzheimers Dis. 2017;57(2):613-623. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation. J Alzheimers Dis. 2017;57(2):613-623. PubMed.

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