Table 3.
Mutations, discovered in the People’s Republic of China
| Gene | Mutation | Was it discovered before? | Clinical phenotype | Age of onset/family history | Functional data | PolyPhen scores | SIFT scores | References |
|---|---|---|---|---|---|---|---|---|
| APP | Val710Gly | No | AD, parkinsonism | 65–82 years/familial | Not available | 1 (probably damaging) | 0 (damaging) | Thajeb et al36 |
| Val717Ile | Yes, in Europe, Japan, Thailand “London APP” | EOAD | 33–35 years/familial | Increased Abeta42/Abeta40 ratio in CHO and HEK293 cells | 0.99 (probably damaging) | 0 (damaging) | Jiao et al12 | |
| Ile718Leu | No | AD, parkinsonism | 65–82 years/familial | Not available | 0.771 (possibly damaging) | 0.1 (tolerated) | Thajeb et al36 | |
| Leu720Ser | No | AD, parkinsonism | 65–82 years/familial | Not available | 1 (probably damaging) | 0 (damaging) | Thajeb et al36 | |
| PSEN1 | Val97Leu | No | EOAD | Unknown | Higher beta-secretase activity in human neuroblastoma cells | 0.99 (probably damaging) | 0 (damaging) | Fang et al42 |
| Phe105Cys | No | EOAD | 59 years/familial | Not available | 0.99 (probably damaging) | 0 (damaging) | Jiao et al12 | |
| Ala136Gly | No | EOAD | Unknown | Survival of mutant neuroblastoma cells dropped | 0.98 (probably damaging) | 0.09 (tolerated) | Fang and Jia43 | |
| Ile167del | No | EOAD, spastic paraparesis | 38 years/familial | Not available | Not applicable | Jiao et al12 | ||
| Ser169del | No | EOAD | 42–50 years/familial | Not available | Not applicable | Guo et al44 | ||
| Leu248Pro | No | EOAD | 42 years/familial | Not available | 1 (probably damaging) | 0.06 (tolerated) | Jiao et al12 | |
| Arg352Cys | No | EOAD, psychiatric, behavioral symptoms | 56–62 years/familial | Not available | 0.92 (probably damaging) | 0.03 (damaging) | Jiang et al35 | |
| Ala434Thr | No | EOAD, hallucinations, delusions | 38 years/de novo | Not available | 0.99 (probably damaging) | 0 (damaging) | Jiao et al12 | |
| PSEN2 | Lys82Arg | No | AD, language disturbances, depression | 53 years/unknown | Not available | 1 (probably damaging | 0.003 (damaging) | Shi et al45 |
| Pro123Leu | No | AD, parkinsonism | 57 years/familial | Not available | 0.99 (probably damaging) | 0 (damaging) | Xia et al7,46 | |
| Asn141Tyr | No | EOAD | 43–49 years/familial | Not available | 0.93 (possibly damaging) | 0 (damaging) | Niu et al13 | |
| His169Asn | No | AD and progressive nonfluent aphasia | 62–68 years/unknown | Not available | 0.98 (probably damaging) | 0.05 (damaging) | Shi et al45 | |
| Val214Leu | Yes, in Korea | AD | 64–65 years/unknown | Not available | 0.97 (probably damaging) | 0.09 (tolerated) | Shi et al45 |
Abbreviations: AD, Alzheimer’s disease; EAOD, early-onset AD.