| Geno
|
Mag
|
Summary
|
| (G;G)
|
0
|
common in clinvar
|
| (G;T)
|
3
|
Carrier of a non-phenylketonuria hyperphenylalaninemia allele
|
| (T;T)
|
6
|
Phenylketonuria
|
aka c.898G>T (p.Ala300Ser or A300S)
FTDNA & MyHeritage name: VG12S8480
[PMID 15171997
] The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
This missense mutation results in a larger side chain Serine, which causes destabilization due to change of polarity in catalytic domain core and can lead to Phenylketonuria or hyperphenylalaninemia. This mutation was associated with BH4 responsiveness as well.
[PMID 18299955] Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
This study reports that A300S is "clearly associated with the mild PKU phenotypes". No A300S homozygotes were included in this study however compound heterozygotes were observed. This study stated that when two mutations are in a compound heterozygous state and have the same predicted effect on the phenotype, the phenotype resulting from them will be less severe. For instance, when the R241H (another PKU mutation) and A300S are combined with a null mutation, they will confer a mild PKU phenotype, and when they are together, they will impart the mild hyperphenylalaninemia phenotype.
] The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency 
