Mutations

PSEN1 V261L

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Reference Assembly: GRCh37 (105)
Position: Chr14:73664750 G>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: GTT to CTT

Findings

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References

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Further Reading

Papers

  1. . Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations. J Alzheimers Dis. 2010;19(3):873-84. PubMed.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis. Eur J Neurol. 2008 Sep;15(9):991-4. PubMed.

Other mutations at this position

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