Mutations Position Table
PSEN2 R163 Mutations
| Mutation | Pathogenicity | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|---|
| R163H |
AD : Benign | Substitution | Substitution | Missense | Coding | Exon 6 | Not applicable. |
Unknown, but in silico analysis predicted a damaging effect (PHRED-scaled CADD score > 20). |
Puschmann et al., 2009 |
| R163C |
AD : Uncertain Significance | Substitution | Substitution | Missense | Coding | Exon 6 | Unknown |
Unknown, but predicted damaging by in silico algorithms. |
Gao et al., 2019 |
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