OMIM: 261600Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | PAH |
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| Dna Change: | c.838G>A |
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| Protein Change: | p.Glu280Lys |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 7 |
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| Transcript: | NM_000277.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Algeria | NA | NA | 1 family | NA | Lyonnet S et al., 1989Lyonnet S, Caillaud C, Rey F, Berthelon M, Frézal J, Rey J, Munnich A, . Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.. Am. J. Hum. Genet.. 1989; 44(4):511-7 |
| Tunisia | NA | NA | 1 family | NA | Lyonnet S et al., 1989Lyonnet S, Caillaud C, Rey F, Berthelon M, Frézal J, Rey J, Munnich A, . Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.. Am. J. Hum. Genet.. 1989; 44(4):511-7 |
| Gene/Locus: | PAH |
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| Dna Change: | c.1045T>C |
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| Protein Change: | p.Ser349Pro |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 10 |
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| Transcript: | NM_000277.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Morocco | Jews | NA | NA | NA | Weinstein M et al., 1993Weinstein M, Eisensmith RC, Abadie V, Avigad S, Lyonnet S, Schwartz G, Munnich A, Woo SL, Shiloh Y, . A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.. Hum. Genet.. 1993; 90(6):645-9 |
| Tunisia | Jews | NA | NA | NA | Weinstein M et al., 1993Weinstein M, Eisensmith RC, Abadie V, Avigad S, Lyonnet S, Schwartz G, Munnich A, Woo SL, Shiloh Y, . A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.. Hum. Genet.. 1993; 90(6):645-9 |
References
Lyonnet S, Caillaud C, Rey F, Berthelon M, Frézal J, Rey J, Munnich A, Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.Am. J. Hum. Genet.. 1989; 44(4):511-7
Weinstein M, Eisensmith RC, Abadie V, Avigad S, Lyonnet S, Schwartz G, Munnich A, Woo SL, Shiloh Y, A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.Hum. Genet.. 1993; 90(6):645-9