Mutations

PSEN1 R220P

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659462 G>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: CGA to CCA
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7

Findings

This PSEN1 mutation was found in a Caucasian woman from Italy who met clinical criteria for probable Alzheimer’s disease (Piccoli et al., 2016). Her symptoms started at age 67 with depression and apathy, followed closely by deficits in attention and memory. Later, she also developed a slight ataxic gait. She had a family history of dementia: Her mother developed AD at the age of 68 and died at age 82. Segregation with disease could not be determined.

Neuropathology

Unknown. MRI showed diffuse cortico-subcortical cerebral atrophy with multiple foci in the deep white matter.

Biological Effect

In silico, this mutation has been predicted probably damaging by PolyPhen and tolerated by SIFT.

Last Updated: 25 Mar 2016

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References

Paper Citations

  1. . Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing. Neurobiol Aging. 2016 Apr;40:192.e7-11. Epub 2016 Feb 28 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing. Neurobiol Aging. 2016 Apr;40:192.e7-11. Epub 2016 Feb 28 PubMed.

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