Mutations

PSEN1 N405S

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.69128A>G
Genomic Mutation Name (NT1): g.85740A>G
dbSNP ID: rs63751254
Coding/Non-Coding: Coding
Genomic Region: Exon 11
Mutation Type: Point, Missense
Codon Change: AAC to AGC

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. . Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy. J Neurol Neurosurg Psychiatry. 2000 Feb;68(2):220-3. PubMed.