Mutations Position Table
PSEN1 A231 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| A231V |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
Cruts et al., 1998 |
| A231P |
AD : Not Classified | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown. |
Unknown, but multiple in silico algorithms predicted a damaging effect. |
Nicolas et al., 2015 |
| A231T |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown |
Decreased Aβ37/Aβ42; Aβ42/Aβ40 mixed results. Decreased production of all Aβ peptides. |
Campion et al., 1995 |
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