Mutations

PSEN1 V261F

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Reference Assembly: GRCh37 (105)
Position: Chr14:73664750 G>T
dbSNP ID: rs63750964
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: GTT to TTT

Findings

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References

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Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 2001 Aug 28;57(4):621-5. PubMed.
  2. . Hereditary lateral sclerosis and Alzheimer disease associated with mutation at codon 261 of the presenilin 1 (PS1) gene. Neurobiol Aging. 2000 May-Jun; 21(Suppl 1):62.
  3. . Familial Alzheimer's disease with spastic paraparesis associated with a mutation at codon 261 of the presenilin 1 gene. In: Alzheimer's Disease: Advances in Etiology, Pathogenesis and Therapeutics. 2001. Chapter 6. pp53-60.

Other mutations at this position

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