Mutations

PSEN1 L250F

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659553 G>T
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: TTG to TTT
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 7

Findings

This mutation was found in a large North American Aboriginal kindred with early onset familial AD (Butler et al., 2010). In contrast to previously reported families with PSEN1 L250 mutations, the affected members of this kindred did not present with either myoclonus or seizures. CT scans from six individuals showed frontal, parietal, and temporal atrophy.

Last Updated: 21 Feb 2019

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References

Paper Citations

  1. . A novel PS1 gene mutation in a large Aboriginal kindred. Can J Neurol Sci. 2010 May;37(3):359-64. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . A novel PS1 gene mutation in a large Aboriginal kindred. Can J Neurol Sci. 2010 May;37(3):359-64. PubMed.

Other mutations at this position

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