Mutations Position Table
SORL1 V361 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| V361L |
Substitution | Substitution | Missense | Coding | Exon 8 | Unknown. |
Unknown; predicted to be deleterious by PolyPhen-2 and Mutation Taster, but likely benign by Mendelian Clinically Applicable Pathogenicity. |
Sun et al., 2021; Andersen et al., 2023 |
| V361Cfs (V361fs) |
Duplication | Duplication | | Coding | Exon 8 | Unknown. |
Unknown. |
Campion et al., 2019 |
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