Mutations Position Table
SORL1 H314 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| H314L |
Substitution | Substitution | Missense | Coding | Exon 7 | Unknown. |
Unknown; predicted tolerated in silico. |
Holstege et al., 2017 |
| H314Y |
Substitution | Substitution | Missense | Coding | Exon 7 | Unknown. |
Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2. |
Campion et al., 2019 |
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