Mutations Position Table
SORL1 H962 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| H962Pfs (H962Pfs*45) |
Deletion | Deletion | | Coding | Exon 20 | Unknown. |
Compared with iPSC-derived neurons from a control subject, cells from the mutation carrier expressed half the amount of SORL1 protein and exhibited enlarged endosomes. |
Holstege et al., 2017 |
| H962Afs |
Duplication | Duplication | | Coding | Exon 20 | Unknown. |
This single-nucleotide insertion introduces a frame shift. |
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