Mutations Position Table
PSEN1 L173 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| L173F (G>C) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown; MRI from two affected mutation carriers showed atrophy of the medial temporal lobe. SPECT showed hypoperfusion of the posterior cingulate gyri and other cortical areas. |
Uncertain. Aβ37/Aβ42 ratio similar to control in one cell-based assay, but increased Aβ42/Aβ40 ratio in two assays. Aβ42 decreased in one assay, but increased in another. |
Kasuga et al., 2009 |
| L173F (G>T) |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown. |
Uncertain. Aβ37/Aβ42 ratio similar to control in one cell-based assay, but increased Aβ42/Aβ40 ratio in two assays. Aβ42 decreased in one assay, but increased in another. (One assays did not specify nucleotide change; other involved synonymous variant L173F (G>C)). |
Jin et al., 2012 |
| L173S |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown |
Unknown, predicted to be damaging by multiple in silico analyses, but not all. PHRED-CADD score=24.1 |
Wang et al., 2019 |
| L173W |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown. |
Decreased Aβ40 and increased Aβ42 and the Aβ42/Aβ40 ratio in vitro. |
Campion et al., 1999 |
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