Mutations

PSEN1 L392P

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.69089T>C
Genomic Mutation Name (NT1): g.85701T>C
dbSNP ID: rs63750218
Coding/Non-Coding: Coding
Genomic Region: Exon 11
Mutation Type: Point, Missense
Codon Change: CTG to CCG

Findings

Comments

Make a Comment

To make a comment you must login or register.

Comments on this content

No Available Comments

References

No Available References

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset. Neurology. 2000 Nov 28;55(10):1590-1. PubMed.
  2. . Novel presenilin 1 and presenilin 2 mutations in early-onset Alzheimer's disease families. Neurobiology of Aging 23 (1S): S312, 2002

Other mutations at this position

View Table