OMIM: 253601Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | DYSF |
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| Dna Change: | c.2875C>T |
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| Protein Change: | p.Arg959Trp |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 27 |
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| Transcript: | NM_003494.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | NA | NA | Cagliani R et al., 2003Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia MC, Sironi M, D'Angelo MG, Prelle A, Locatelli F, Toscano A, Bresolin N, Comi GP, . Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.. Neuromuscul. Disord.. 2003; 13(10):788-95 |
| Gene/Locus: | DYSF |
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| Dna Change: | c.5713C>T |
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| Protein Change: | p.Arg1905X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 51 |
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| Transcript: | NM_003494.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | Sueca | 1 family | NA | Vilchez JJ et al., 2005Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I, . Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.. Arch. Neurol.. 2005; 62(8):1256-9 |
References
Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia MC, Sironi M, D'Angelo MG, Prelle A, Locatelli F, Toscano A, Bresolin N, Comi GP, Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population.Neuromuscul. Disord.. 2003; 13(10):788-95
Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I, Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.Arch. Neurol.. 2005; 62(8):1256-9