Mutations Position Table
SORL1 N1392 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| N1392K |
Substitution | Substitution | Missense | Coding | Exon 30 | Unknown. |
Unknown; predicted to be deleterious by SIFT and PolyPhen-2, but neutral by Mutation Taster. |
Rovelet-Lecrux et al., 2021 |
| N1392N |
Substitution | Substitution | Silent | Coding | Exon 30 | Unknown. |
Unknown; predicted tolerated in silico. |
T Cuenco et al., 2008 |
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