OMIM: 600072Inheritance: Autosomal dominant
Classification: Certain infectious and parasitic diseases
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | PRNP |
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| Dna Change: | c.532G>A |
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| Protein Change: | p.Asp178Asn |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 2 |
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| Transcript: | NM_000311.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | Basque | NA | NA | Rodríguez-Martínez AB et al., 2005Rodríguez-Martínez AB, Barreau C, Coupry I, Yagüe J, Sánchez-Valle R, Galdós-Alcelay L, Ibáñez A, Digón A, Fernández-Manchola I, Goizet C, Castro A, Cuevas N, Alvarez-Alvarez M, de Pancorbo MM, Arveiler B, Zarranz JJ, . Ancestral origins of the prion protein gene D178N mutation in the Basque Country.. Hum. Genet.. 2005; 117(1):61-9 |
| Spain | NA | NA | NA | NA | Rodríguez-Martínez AB et al., 2008Rodríguez-Martínez AB, Alfonso-Sánchez MA, Peña JA, Sánchez-Valle R, Zerr I, Capellari S, Calero M, Zarranz JJ, de Pancorbo MM, . Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation.. Neurogenetics. 2008; 9(2):109-18 |
References
Rodríguez-Martínez AB, Alfonso-Sánchez MA, Peña JA, Sánchez-Valle R, Zerr I, Capellari S, Calero M, Zarranz JJ, de Pancorbo MM, Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation.Neurogenetics. 2008; 9(2):109-18
Rodríguez-Martínez AB, Barreau C, Coupry I, Yagüe J, Sánchez-Valle R, Galdós-Alcelay L, Ibáñez A, Digón A, Fernández-Manchola I, Goizet C, Castro A, Cuevas N, Alvarez-Alvarez M, de Pancorbo MM, Arveiler B, Zarranz JJ, Ancestral origins of the prion protein gene D178N mutation in the Basque Country.Hum. Genet.. 2005; 117(1):61-9