Mutations Position Table

PSEN1 L174 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
L174R
AD : Pathogenic Substitution Substitution | Missense Coding Exon 6

Neuropathology consistent with AD in one case. Also, abundant Lewy bodies in amygdala and entorhinal cortex.

 

Increased Aβ42/Aβ40 and Aβ43 levels; decreased Aβ37/Aβ42.

Klünemann et al., 2004
L174del
AD : Not Classified Deletion Deletion | Deletion Coding Exon 6

Unknown, proband MRI revealed slight temporal lobe atrophy.

Increased Aβ40, and decreased Aβ42 and Aβ42/Aβ40 in proband's CSF

Tiedt et al., 2013
L174M
AD : Pathogenic Substitution Substitution | Missense Coding Exon 6

Neuropathology consistent with AD and CAA in one case.

Decreased Aβ40 and increased Aβ42/Aβ40 ratio in in vitro experiments. Conservative mutation in third transmembrane domain.

Bertoli Avella et al., 2002;
Tedde et al., 2003

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