Mutations Position Table
PSEN1 Q222 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| Q222H |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Neuropathology consistent with AD in one case, CSF biomarkers consistent with AD in another case. |
Increased Aβ42/Aβ40, decreased Aβ37/Aβ42, and increased Aβ43 levels in cultured cells. |
Miklossy et al., 2003 |
| Q222P |
AD : Uncertain Significance | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown |
Unknown, but predicted to be probably damaging by Polyphen and deleterious by Provean. Conserved between species and PSENs; other pathogenic mutations at this site. |
Scahill et al., 2013; Ryan et al., 2016 |
| Q222R |
AD : Likely Pathogenic | Substitution | Substitution | Missense | Coding | Exon 7 | Unknown |
Increased Aβ40 and Aβ42 production, as well as the Aβ42/Aβ40 ratio in vitro. |
Rogaeva et al., 2001 |
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