Mutations Position Table
PSEN1 V272 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| V272A |
AD : Pathogenic | Substitution | Substitution | Missense | Coding | Exon 8 | Neuropathology consistent with AD, but also Lewy bodies in cortex and substantia nigra, and widespread subcortical neuritic lesions. MRI and PET abnormalities in subcortical-frontal areas in later stages of disease. |
Increased plasma Aβ42. In vitro, increased Aβ42 production and Aβ42/Aβ40. |
Jimenez-Escrig et al., 2004 |
| V272D |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 8 | Unknown, but MRI in one case revealed frontotemporal atrophy. |
Increased Aβ42/Aβ40 ratio in cultured cells. |
Mengel et al., 2020 |
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