Mutations Position Table
SORL1 R1207 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1207Q |
Substitution | Substitution | Missense | Coding | Exon 26 | Unknown. |
Unknown; predicted tolerated in silico. |
Vardarajan et al., 2015 |
| R1207Ter (R1207X) |
Substitution | Substitution | Nonsense | Coding | Exon 26 | Unknown. |
Unknown; predicted deleterious in silico. |
Sassi et al., 2016 |
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