OMIM: 168600Inheritance: Multifactorial
Classification: Diseases of the nervous system
Related informations: Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | TARDBP |
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| Dna Change: | c.1144G>A |
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| Protein Change: | p.Ala382Th |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 6 |
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| Transcript: | NM_007375.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Sardinia | 9 patients | NA | Cannas A et al., 2013Cannas A, Borghero G, Floris GL, Solla P, Chiò A, Traynor BJ, Calvo A, Restagno G, Majounie E, Costantino E, Piras V, Lavra L, Pani C, Orofino G, Di Stefano F, Tacconi P, Mascia MM, Muroni A, Murru MR, Tranquilli S, Corongiu D, Rolesu M, Cuccu S, Marrosu F, Marrosu MG, . The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.. Neurogenetics. 2013; 14(2):161-6 |
References
Cannas A, Borghero G, Floris GL, Solla P, Chiò A, Traynor BJ, Calvo A, Restagno G, Majounie E, Costantino E, Piras V, Lavra L, Pani C, Orofino G, Di Stefano F, Tacconi P, Mascia MM, Muroni A, Murru MR, Tranquilli S, Corongiu D, Rolesu M, Cuccu S, Marrosu F, Marrosu MG, The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.Neurogenetics. 2013; 14(2):161-6