Mutations Position Table

PSEN1 A231 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
A231V
AD : Not Classified Substitution Substitution | Missense Coding Exon 7

Unknown

Unknown, but multiple in silico algorithms predicted a damaging effect.

Cruts et al., 1998
A231P
AD : Not Classified Substitution Substitution | Missense Coding Exon 7

Unknown.

Unknown, but multiple in silico algorithms predicted a damaging effect.

Nicolas et al., 2015
A231T
AD : Likely Pathogenic Substitution Substitution | Missense Coding Exon 7

Unknown

Decreased Aβ37/Aβ42; Aβ42/Aβ40 mixed results. Decreased production of all Aβ peptides.

Campion et al., 1995

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