Mutations Position Table
SORL1 R744 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| R744Q |
Substitution | Substitution | Missense | Coding | Exon 16 | Unknown. |
Unknown. |
|
| R744Ter (R744X) |
Substitution | Substitution | Nonsense | Coding | Exon 16 | Unknown. |
Microglia-like cells derived from human embryonic stem cells made homozygous for the R744Ter mutation lacked SORL1. |
Holstege et al., 2017 |
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