Mutations Position Table

PSEN1 L226 Mutations

Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
L226F
Alzheimer's Disease, Frontotemporal Dementia Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD.

Increased Aβ42/Aβ40 ratio; increased Aβ42; increased Aβ40.

rs63750487
Coding
Exon 7
Point, Missense
CTC to TTC
0 Zekanowski et al., 2006
L226R
Alzheimer's Disease Alzheimer's Disease : Pathogenic

Neuropathology consistent with AD in one individual, including numerous neuritic plaques and neurofibrillary tangles in the hippocampus and neocortex.

Unknown, but consistent with the helical alignment of pathogenic mutations in transmembrane domain 5.

rs63749961
Coding
Exon 7
Point, Missense
CTC to CGC
0 Coleman et al., 2004

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