Mutations Position Table
SORL1 M1279 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| M1279I (G>A) |
Substitution | Substitution | Missense | Coding | Exon 28 | Unknown. |
Unknown. |
Holstege et al., 2022 |
| M1279I (G>T) |
Substitution | Substitution | Missense | Coding | Exon 28 | Unknown. |
Unknown. |
|
| M1279V |
Substitution | Substitution | Missense | Coding | Exon 28 | Unknown. |
Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. |
Holstege et al., 2017 |
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