Table 1.
Single-variant associations of rare SORL1 mutations reported in the literature in patients with dementia
| Position (hg38) | REF | ALT | dbSNP | AA Change | gnomAD MAF (all population) | gnomAD MAF (NFE) | No. of LBD Patients | No. of Controls | p-value | Previous Reports |
|---|---|---|---|---|---|---|---|---|---|---|
| chr11:121514222 | A | C | rs150609294 | p.N371T | 0.0014 | 0.0031 | 8 | 8 | 0.2458 | Alzheimer’s disease with FTLD |
| chr11:121514245 | G | T | - | p.G379W | - | - | 1 | 0 | 0.3915 | Parkinson’s disease and mixed dementia |
| chr11:121550604 | G | A | rs148430425 | p.D734N | 0.0006 | 0.0002 | 0 | 3 | 0.2853 | Alzheimer’s disease with DLB |
| chr11:121558767 | C | T | rs143571823 | p.T947M | 0.0042 | 0.00011 | 0 | 1 | 1 | Late-onset Alzheimer’s disease with DLB |
| chr11:121586253 | C | G | rs1699102 | p.N1246K | 0.00002 | 0.00005 | 0 | 1 | 1 | Alzheimer’s disease |
| chr11:121595662 | G | A | rs776117825 | p.R1470Q | 0.00001 | 0.00004 | 0 | 2 | 0.5235 | Alzheimer’s disease with DLB |
| chr11:121625107 | A | T | rs140327834 | p.D2065V | 0.0022 | 0.0037 | 25 | 42 | 0.8029 | Alzheimer’s disease, DLB, FTLD |
| chr11:121627591 | C | T | rs142884576 | p.T2134M | 0.0005 | 0.0008 | 4 | 5 | 0.7441 | Early-onset Alzheimer’s disease with DLB |
Rare loss-of-function and missense mutations in SORL1 reported in patients with mixed dementia. The minor allele frequencies (MAF) in non-Finnish European ancestry (NFE) population are reported from the Genome Aggregation Database v3.1.2 (gnomAD)(https://gnomad.broadinstitute.org/). Abbreviations: reference allele (REF), alternate allele (ALT), amino acid change (AA change), Frontotemporal dementia (FTLD), Dementia with Lewy bodies (DLB).