Table 1. NOTCH3 Mutations With Predicted Functional Impact on AD Risk.
| SNP | Position (chr 19)a | Exon | GnomAD Frequency | Protein Position | Residue Change | Observed Mutation Carriers |
|---|---|---|---|---|---|---|
| rs140914494 | 15 192 046 | 4 | 0.00003 | 198 | Ala>Glu | AD-affected relative pair |
| rs141402160 | 15 191 804 | 5 | 0.00005 | 248 | Gly>Ala | AD-affected relative pair |
| rs149307620 | 15 191 610 | 6 | 0.00029 | 284 | Ala>Thr | 11 Participants with AD, 1 participant with MCI |
Abbreviations: AD, Alzheimer disease; GnomAD, Genome Aggregation Database; MCI, mild cognitive impairment; SNP, single-nucleotide polymorphism.
a
Chromosome position according to GRCh38.p12 assembly.