Mutations Position Table
PSEN1 L262 Mutations
| Mutation | Clinical Phenotype |
Pathogenicity | Neuropathology | Biological Effect | Genomic Position | Genomic Region | Mutation Type Codon Change |
Research Models |
Primary Papers |
|---|---|---|---|---|---|---|---|---|---|
| L262F |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | A brain biopsy from one case "confirmed the diagnosis of AD". |
Increased Aβ42/Aβ40 ratio in vitro, exhibiting a moderate increase in Aβ42 production, and a decrease in Aβ40 production. |
rs63750248 |
Coding Exon 8 |
Point, Missense TTG to TTC |
0 | Forsell et al., 1997 |
| L262S |
Alzheimer's Disease | Alzheimer's Disease : Pathogenic | Unknown |
Predicted to be damaging by four different algorithms, with a PHRED-CADD score of 32. |
Coding Exon 8 |
Point, Missense TTG to TCG |
0 | Wang et al., 2019 | |
| L262V |
Alzheimer's Disease, Frontotemporal Dementia | Alzheimer's Disease : Pathogenic | Unknown. |
Unknown; predicted probably damaging in silico. |
Coding Exon 8 |
Point, Missense TTG to GTG |
0 | Wallon et al., 2012; Lohmann et al., 2012 |
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