Mutations Position Table
SORL1 P1113 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| P1113A |
Substitution | Substitution | Missense | Coding | Exon 23-24 | Unknown. |
Unknown. |
|
| P1113S |
Substitution | Substitution | Missense | Coding | Exon 23-24 | Unknown. |
Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2. |
Verheijen et al., 2016 |
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