Mutations Position Table
SORL1 T1222 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| T1222T |
Substitution | Substitution | Nonsense | Coding | Exon 26 | Unknown. |
Unknown. |
Holstege et al., 2017 |
| T1222M |
Substitution | Substitution | Missense | Coding | Exon 26 | Unknown. |
Unknown; predicted tolerated in silico. |
Holstege et al., 2017 |
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