Gene Symbol: APP
OMIM: 104760Chromosome location: 21q21.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Alzheimer disease 1, familial |
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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