Mutations Position Table
SORL1 S124 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| S124R (C>A) |
Substitution | Substitution | Missense | Coding | Exon 2 | Unknown. |
Unknown; predicted to be probably damaging by PolyPhen-2, deleterious by SIFT, and disease causing by Mutation Taster. |
Bellenguez et al., 2017 |
| S124R (C>G) |
Substitution | Substitution | Missense | Coding | Exon 2 | Unknown. |
Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. |
Nicolas et al., 2016 |
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