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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