Mutations Position Table
PSEN1 L226 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Coding/Non-Coding | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|---|
| L226R |
Alzheimer's Disease | AD : Likely 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. CADD score > 20. |
rs63749961 |
Coding | Exon 7 | Point, Missense CTC to CGC |
0 | Coleman et al., 2004 |
| L226F |
Alzheimer's Disease, Frontotemporal Dementia | AD : 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 |
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