Mutations Position Table

PSEN1 I439 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
I439S
AD : Not Classified Substitution Substitution | Missense Coding Exon 12

Unknown, but MRI showed diffuse cortical atrophy in one case.

Unknown, but PolyPhen analysis predicted the mutation is possibly damaging.

Gómez-Tortosa et al., 2010
I439V
AD : Uncertain Significance Substitution Substitution | Missense Coding Exon 12

Unknown.

In vitro, moderately increased Aβ40 and Aβ42 production; Aβ42/Aβ40 ratio unchanged. In cells, increased Aβ42 secretion; Aβ42/Aβ40 unchanged.

 

Rogaeva et al., 2001

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