Gene Symbol: PRNP
OMIM: 176640Chromosome location: 20p13
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Creutzfeldt-Jakob disease |
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| Dna Change: | c.598G>A |
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| Protein Change: | p.Glu200Lys |
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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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| Italy | NA | NA | 7 families | NA | Lee HS et al., 1999Lee HS, Sambuughin N, Cervenakova L, Chapman J, Pocchiari M, Litvak S, Qi HY, Budka H, del Ser T, Furukawa H, Brown P, Gajdusek DC, Long JC, Korczyn AD, Goldfarb LG, . Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.. Am. J. Hum. Genet.. 1999; 64(4):1063-70 |
| Libya | Jews | NA | NA | NA | Colombo R et al., 2000Colombo R, . Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews.. Am. J. Hum. Genet.. 2000; 67(2):528-31 |
| Libya | Jews | NA | 15 families | NA | Lee HS et al., 1999Lee HS, Sambuughin N, Cervenakova L, Chapman J, Pocchiari M, Litvak S, Qi HY, Budka H, del Ser T, Furukawa H, Brown P, Gajdusek DC, Long JC, Korczyn AD, Goldfarb LG, . Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.. Am. J. Hum. Genet.. 1999; 64(4):1063-70 |
| Spain | NA | NA | 1 family | NA | Lee HS et al., 1999Lee HS, Sambuughin N, Cervenakova L, Chapman J, Pocchiari M, Litvak S, Qi HY, Budka H, del Ser T, Furukawa H, Brown P, Gajdusek DC, Long JC, Korczyn AD, Goldfarb LG, . Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.. Am. J. Hum. Genet.. 1999; 64(4):1063-70 |
| Tunisia | Jews | NA | 6 families | NA | Lee HS et al., 1999Lee HS, Sambuughin N, Cervenakova L, Chapman J, Pocchiari M, Litvak S, Qi HY, Budka H, del Ser T, Furukawa H, Brown P, Gajdusek DC, Long JC, Korczyn AD, Goldfarb LG, . Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.. Am. J. Hum. Genet.. 1999; 64(4):1063-70 |
| Phenotype: | Creutzfeldt-Jakob disease |
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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 | 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 |
| Spain | NA | Basque | 23 patients | NA | Zarranz JJ et al., 2005Zarranz JJ, Digon A, Atarés B, Rodríguez-Martínez AB, Arce A, Carrera N, Fernández-Manchola I, Fernández-Martínez M, Fernández-Maiztegui C, Forcadas I, Galdos L, Gómez-Esteban JC, Ibáñez A, Lezcano E, López de Munain A, Martí-Massó JF, Mendibe MM, Urtasun M, Uterga JM, Saracibar N, Velasco F, de Pancorbo MM, . Phenotypic variability in familial prion diseases due to the D178N mutation.. J. Neurol. Neurosurg. Psychiatr.. 2005; 76(11):1491-6 |
References
Colombo R, Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews.Am. J. Hum. Genet.. 2000; 67(2):528-31
Lee HS, Sambuughin N, Cervenakova L, Chapman J, Pocchiari M, Litvak S, Qi HY, Budka H, del Ser T, Furukawa H, Brown P, Gajdusek DC, Long JC, Korczyn AD, Goldfarb LG, Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.Am. J. Hum. Genet.. 1999; 64(4):1063-70
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
Zarranz JJ, Digon A, Atarés B, Rodríguez-Martínez AB, Arce A, Carrera N, Fernández-Manchola I, Fernández-Martínez M, Fernández-Maiztegui C, Forcadas I, Galdos L, Gómez-Esteban JC, Ibáñez A, Lezcano E, López de Munain A, Martí-Massó JF, Mendibe MM, Urtasun M, Uterga JM, Saracibar N, Velasco F, de Pancorbo MM, Phenotypic variability in familial prion diseases due to the D178N mutation.J. Neurol. Neurosurg. Psychiatr.. 2005; 76(11):1491-6