Mutations Position Table

PSEN1 L262 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
L262F
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 8

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.

Forsell et al., 1997
L262S
AD : Not Classified Substitution Substitution | Missense Coding Exon 8

Unknown

Predicted to be damaging by four different algorithms, with a PHRED-CADD score of 32.

Wang et al., 2019
L262V
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 8

Unknown.

Unknown; predicted probably damaging in silico.

Wallon et al., 2012;
Lohmann et al., 2012

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