PSEN2
Gene name: presenilin 2OMIM ID: 600759
Chromosome location: 1q42.13
Mutations
| Disease/Phenotype | Alzheimer disease-4 |
|---|---|
| Reference transcript | NM_012486 |
| DNA Change | c.378_379insA |
| A.A. Change | p.Asp127Argfs*137 |
| Exon/Intron | exon 6 |
| 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. |
| Disease/Phenotype | Alzheimer disease-4 |
|---|---|
| Reference transcript | NM_012486 |
| DNA Change | c.917delA |
| A.A. Change | p.Lys306Serfs*38 |
| Exon/Intron | exon 10 |
| Mutation Type | deletion |
| 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. |