OMIM: 104300Inheritance: Autosomal dominant
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | APP |
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| Dna Change: | c.2137G>A |
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| Protein Change: | p.Ala713Thr |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 17 |
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| Transcript: | NM_000484.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Southern | 3 patients/ 59 patients | NA | Bernardi L et al., 2009Bernardi L, Geracitano S, Colao R, Puccio G, Gallo M, Anfossi M, Frangipane F, Curcio SA, Mirabelli M, Tomaino C, Vasso F, Smirne N, Maletta R, Bruni AC, . AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.. J. Alzheimers Dis.. 2009; 17(2):383-9 |
References
Bernardi L, Geracitano S, Colao R, Puccio G, Gallo M, Anfossi M, Frangipane F, Curcio SA, Mirabelli M, Tomaino C, Vasso F, Smirne N, Maletta R, Bruni AC, AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.J. Alzheimers Dis.. 2009; 17(2):383-9