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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Creutzfeldt-Jakob disease

OMIM: 123400
Inheritance: Autosomal dominant
Classification: Certain infectious and parasitic diseases

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

PRNP || c.598G>A

Gene/Locus:	PRNP
Dna Change:	c.598G>A
Protein Change:	p.Glu200Lys
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_000311.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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

PRNP || c.532G>A

Gene/Locus:	PRNP
Dna Change:	c.532G>A
Protein Change:	p.Asp178Asn
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 2
Transcript:	NM_000311.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
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	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, 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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Creutzfeldt-Jakob disease

References