Mutations Position Table
PSEN2 P334 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| P334R |
AD : Benign | Substitution | Substitution | Missense | Coding | Exon 11 | Not applicable. |
Unknown, but predicted not damaging in silico (PHRED-scaled CADD score = 16.3). |
Lleó et al., 2002 |
| P334A |
AD : Benign | Substitution | Substitution | Missense | Coding | Exon 11 | Not applicable. |
Moderately decreased Aβ40 without changing Aβ42/Aβ40 ratio. |
Lee et al., 2014 |
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