Mutations Position Table

PSEN1 R269 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
R269G
Alzheimer's Disease, Myoclonus Alzheimer's Disease : Likely Pathogenic

Unknown, but in one patient, MRI showed mild, non-specific cortical atrophy and EEG revealed a moderate, bilateral excess of slow wave activity. SPECT imaging showed non-specific, moderate hypoperfusion of the posterior parietal cortex.

 

Decreased Aβ40 and Aβ42 production; increased Aβ42/Aβ40 ratio. 

rs63751019
Coding
Exon 8
Point, Missense
CGT to GGT
0 Perez-Tur et al., 1996
R269H
Alzheimer's Disease, Myoclonus Alzheimer's Disease : Likely Pathogenic, Cerebral Amyloid Angiopathy : Not Classified

Neuropathology consistent with Alzheimer's disease; a high burden of Aβ and neurofibrillary tangles in cortical areas. Prominent microbleeds in the cerebellum, parieto-occipital region, and temporal lobe revealed by MRI in one patient. MRI in two cases showed white matter alterations.

Decreased Aβ40, Aβ42, Aβ43, sAPPα, sAPPβ levels, and Aβ42/Aβ40 ratio in CSF of one carrier.

rs63750900
Coding
Exon 8
Point, Missense
CGT to CAT
0 Gómez-Isla et al., 1997

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