Mutations

PSEN1 I213T

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genome Build: GRCh37 (105)
Position: Chr14:73659441 T>C
dbSNP ID: rs63751039
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: ATT to ACT

Findings

This mutation was identified in a Japanese family known as OS-2, which was affected by early onset Alzheimer’s disease (Kamino et al., 1996). The reported pedigree shows four affected individuals over two generations. The mean age of onset in this family was 45.0 ± 4.24 (range: 42-48). Further clinical details were not reported. The mutation was found in one affected family member by direct sequencing. Segregation with disease could not be determined due to lack of DNA from other family members.

Neuropathology

Unknown.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families. Neurosci Lett. 1996 Apr 26;208(3):195-8. PubMed.

Further Reading

Papers

  1. . Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool. Cell. 2016 Jun 30;166(1):193-208. Epub 2016 Jun 9 PubMed.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families. Neurosci Lett. 1996 Apr 26;208(3):195-8. PubMed.

Other mutations at this position

Alzpedia