Mutations

PSEN1 I143M

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genome Build: 105
Position: Chr14:73640364 T>G
dbSNP ID: rs63751071
Coding/Non-Coding: Coding
Genomic Region: Exon 5
Mutation Type: Point, Missense
Codon Change: ATT to ATG

Findings

Comments

Comments on this content

No Available Comments

Make a Comment

To make a comment you must login or register.

References

No Available References

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous South African family with early-onset Alzheimer's disease. Neurobiology of Aging 23 (1S): S321, 2002

Other mutations at this position

Alzpedia