Mutations Position Table

PSEN2 L238 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
L238P
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 8

Unknown; MRI showed supratentorial cortical atrophy, particularly atrophy of the parietal cortex.

Unknown; predicted damaging in silico (PHRED-scaled CADD score = 26.7).

Blauwendraat et al., 2016
L238F
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 8

Unknown.

Increased Aβ42/Aβ40 ratio in cellular assay.

Sala Frigerio et al., 2015

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