Mutations Position Table
SORL1 R1470 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R1470L |
Substitution | Substitution | Missense | Coding | Exon 32 | Unknown. |
Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2. |
Verheijen et al., 2016 |
| R1470Q |
Substitution | Substitution | Missense | Coding | Exon 32 | Unknown. |
Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2. |
Campion et al., 2019 |
| R1470Ter |
Substitution | Substitution | Nonsense | Coding | Exon 32 | Unknown, but amyloid-PET positive. Cortical and hippocampal atrophy and cerebral small vessel disease shown by MRI. |
Unknown; predicted to be protein truncating. |
Alvarez-Mora et al., 2022 |
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