PSEN1
Gene name: presenilin 1OMIM ID: 104311
Chromosome location: 14q24.2
Mutations
| Disease/Phenotype | Alzheimer disease, type 3 |
|---|---|
| Reference transcript | NM_000021 |
| DNA Change | c.1133_1134insG |
| A.A. Change | p.Val379Serfs*17 |
| Exon/Intron | exon 11 |
| Mutation Type | insertion |
| Reference | El Kadmiri N, Zaid N, Zaid Y, Tadevosyan A, Hachem A, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.
Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease. Neuroscience. 2014 Jun 6;269:215-22. |