Mutations Position Table
SORL1 H1813 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| H1813Q |
Substitution | Substitution | Missense | Coding | Exon 41 | Unknown. |
Unknown; predicted to be be benign by PolyPhen-2, tolerated by SIFT, and deleterious by Mutation Taster. |
Verheijen et al., 2016 |
| H1813R |
Substitution | Substitution | Missense | Coding | Exon 41 | Unknown. |
Unknown; predicted to tolerated by SIFT and benign by PolyPhen-2, but deleterious by Mutation Taster. |
Verheijen et al., 2016 |
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