Mutations Position Table

PSEN1 L174 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L174del
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Unknown, proband MRI revealed slight temporal lobe atrophy.

Increased Aβ40, and decreased Aβ42 and Aβ42/Aβ40 in proband's CSF


Coding
Exon 6
Deletion
CTG to ---
0 Tiedt et al., 2013
L174M
Alzheimer's Disease Alzheimer's Disease : Pathogenic, Cerebral Amyloid Angiopathy : Pathogenic

Neuropathology consistent with AD and CAA in one case.

Decreased Aβ40 and increased Aβ42/Aβ40 ratio in in vitro experiments. Conservative mutation in third transmembrane domain.

rs63751144
Coding
Exon 6
Point, Missense
CTG to ATG
0 Bertoli Avella et al., 2002;
Tedde et al., 2003
L174R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD in one case. Also, abundant Lewy bodies in amygdala and entorhinal cortex.

Unknown.

rs63751025
Coding
Exon 6
Point, Missense
CTG to CGG
0 Klünemann et al., 2004

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.