Table 3.
Coding sequence variants in EOAD genes with unknown significance
| Gene | Exon | Genomic mutation | Predicted cDNA | Predicted protein | Protein domain | rs number | Frequency in patients (%) |
|---|---|---|---|---|---|---|---|
| PSEN1 | 9 | g.58389A>G | c.953A>G | p.Glu318Gly | HL-VI b | rs17125721 | 8 (3.5) |
| PSEN2 | 4 | g.1816G>C | c.162G>C | p.Glu54Aspa | N-Term | - | 1 (0.4) |
| PSEN2 | 4 | g.1838C>G | c.184C>G | p.Arg62Glya | N-Term | - | 1 (0.4) |
| PSEN2 | 4 | g.1839G>A | c.185G>A | p.Arg62His | N-Term | rs58973334 | 4 (1.7) |
| PSEN2 | 4 | g.1862G>A | c.208G>A | p.Gly70Arga | N-Term | - | 1 (0.4) |
a
Novel mutation.
PSEN1, presenilin 1, PSEN2, presenilin 2.