Table 5.
Mutations, discovered in other Asian countries
| Gene | Mutation | Was it discovered before? | Clinical phenotype | Age of onset | Functional data | PolyPhen2 scores | SIFT scores | References |
|---|---|---|---|---|---|---|---|---|
| APP | Thr714Ala “Iranian APP” | No, but it was discovered in Poland later | EOAD, epilepsy | 47–55 years/familial | Not available | 1 (probablydamaging) | 0.01 (damaging) | Finkch et al37 |
| Val717Ile (Thailand) | Yes, in Europe, the People’s Republic of China, Japan “London APP” | EOAD | 54 years/unknown | Increased Abeta42/Abeta40 ratio in CHO and HEK293 cells | 1 (probablydamaging) | 0 (damaging) | Pasalar et al86 | |
| PSEN1 | Glu280Lys (Malaysia) | No | EOAD, parkinsonism | 48–57 years/familial | Not available | 0.99 (probably damaging) | 0 (damaging) | Chng et al88 |
Abbreviation: EAOD, early-onset Alzheimer’s disease.