Mutations Position Table
SORL1 M1697 Mutations
Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
---|---|---|---|---|---|---|---|
M1697I (G>A) |
Substitution | Substitution | Missense | Coding | Exon 37 | Unknown. |
Unknown; predicted tolerated in silico. |
Verheijen et al., 2016 |
M1697I (G>C) |
Substitution | Substitution | Missense | Coding | Exon 37 | Unknown. |
Unknown; predicted tolerated in silico. |
Holstege et al., 2017 |
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