Mutations Position Table
SORL1 N1246 Mutations
| Mutation | DNA Change | Expected RNA | Protein Consequence | Coding/Non-Coding | Genomic Region | Neuropathology | Biological Effect | Primary Papers |
|---|---|---|---|---|---|---|---|
| N1246K |
Substitution | Substitution | Missense | Coding | Exon 27 | Unknown. |
Unknown; predicted to be deleterious by SIFT and PolyPhen-2, but neutral by Mutation Taster. |
Campion et al., 2019 |
| N1246N (SNP 22) |
Substitution | Substitution | Silent | Coding | Exon 27 | Unknown, but T allele associated with atrophy of the right middle temporal pole in a sample of non-demented Han Chinese, assessed with MRI. |
Predicted tolerated in silico. In a set of autopsy specimens from Caucasian donors with AD, the level of SORL1 protein in the frontal cortex was lower in carriers of the SNP 22 C allele, in a gene-dose-dependent manner. |
Rogaeva et al., 2007 |
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