Mutations Position Table
SORL1 N818 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| N818K (T>A) |
Substitution | Substitution | Missense | Coding | Exon 18 | Unknown. |
Unknown; predicted deleterious in silico. |
Campion et al., 2019 |
| N818K (T>G) |
Substitution | Substitution | Missense | Coding | Exon 18 | Unknown. |
Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. |
Verheijen et al., 2016 |
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