Have questions? Visit https://www.reddit.com/r/SNPedia

rs5030853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a non-phenylketonuria hyperphenylalaninemia allele
(T;T) 6 Phenylketonuria
ReferenceGRCh38 38.1/141
Chromosome12
Position102851701
GenePAH
is asnp
is mentioned by
dbSNPrs5030853
dbSNP (classic)rs5030853
ClinGenrs5030853
ebirs5030853
HLIrs5030853
Exacrs5030853
Gnomadrs5030853
Varsomers5030853
LitVarrs5030853
Maprs5030853
PheGenIrs5030853
Biobankrs5030853
1000 genomesrs5030853
hgdprs5030853
ensemblrs5030853
geneviewrs5030853
scholarrs5030853
googlers5030853
pharmgkbrs5030853
gwascentralrs5030853
openSNPrs5030853
23andMers5030853
SNPshotrs5030853
SNPdbers5030853
MSV3drs5030853
GWAS Ctlgrs5030853
Max Magnitude6

aka c.898G>T (p.Ala300Ser or A300S)

FTDNA & MyHeritage name: VG12S8480

[PMID 15171997OA-icon.png] 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 18299955OA-icon.png] 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.


ClinVar
Risk Rs5030853(T;T)
Alt Rs5030853(T;T)
Reference Rs5030853(G;G)
Significance Pathogenic
Disease not provided Phenylketonuria
Variation info
Gene PAH
CLNDBN not provided Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103245479C>A
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000078536.6, RCV000150084.5,