Mutations Position Table
PSEN1 L174 Mutations
| 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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