Mutations Position Table
PSEN1 E184 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| E184D |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic, Dementia with Lewy Bodies : Pathogenic, Primary Progressive Aphasia : Pathogenic | Neuropathology consistent with AD in three cases. In addition, CAA pathology described in two cases. Also, in two cases, robust Lewy body pathology and, in one of these cases, accumulation of the non-Aβ component of AD amyloid (NAC) in plaques and astrocytes. |
Decreased Aβ40 and Aβ42 production, and increased Aβ42:Aβ40 ratio, as assessed in vitro. |
rs63750311 |
Coding Exon 7 |
Point, Missense GAA to GAC |
0 | Yasuda et al., 1997 |
| E184G |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown, but MRI of one patient revelaed global cortical atrophy. |
Increased Aβ42/Aβ40 ratio, with decreased Aβ42 and Aβ40 production in vitro. In silico algorithms predicted the mutation is damaging and causes structural alterations. Also, mutation is near splice site. |
Coding Exon 7 |
Point, Missense GAA to GGA |
0 | Wallon et al., 2012 |
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.