Mutations Position Table

PSEN1 E184 Mutations


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

Neuropathology consistent with AD in three cases. In addition, CAA pathology described in two cases. Also, in two cases, robust Lewy body pathology and, in one of these cases, accumulation of the non-Aβ component of AD amyloid (NAC) in plaques and astrocytes.

Increased Aβ42/Aβ40 ratio; reduced Aβ37/Aβ42 ratio in cultured cells.

Yasuda et al., 1997
AD : Likely Pathogenic Substitution Splicing Alteration | Missense Coding Exon 7

Unknown, but MRI of one patient revelaed global cortical atrophy.

Increased Aβ42/Aβ40 ratio, with decreased Aβ42 and Aβ40 production in vitro. In silico algorithms predicted the mutation is damaging and causes structural alterations. Also, mutation is near splice site.

Wallon et al., 2012

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