Sequence-based mutation analysis (Phenylketonuria)
From Bioinformatikpedia
Summary
...
Sequence-based mutation analysis
Mutation dataset
For the generation of the mutation dataset the following five SNPs from the HGMD database were used: <figtable id="mutds">
| Missense mutations (SNPs) from HGMD | ||||||
|---|---|---|---|---|---|---|
| Accession Number | Codon change | Sequence position | Amino acid change | Codon number | Phenotype | Reference |
| CM000542 | CAG-CTG | x | Gln-Leu | 20 | Hyperphenylalaninaemia | Hennermann (2000) Hum Mutat 15, 254 |
| CM045080 | tGGT-AGT | x | Gly-Ser | 103 | Phenylketonuria | Lee (2004) J Hum Genet 49, 617 |
| CM910286 | GCC-GTC | x | Ala-Val | 259 | Phenylketonuria | Labrune (1991) Am J Hum Genet 48, 1115 |
| CM087278 | ACAa-ACG | x | Thr-Thr | 323 | Increased activity | Ho (2008) Biochem Biophys Res Commun 373, 515 |
| CM090791 | CCA-CAA | x | Pro-Gln | 416 | Hyperphenylalaninaemia | Dobrowolski (2009) J Inherit Metab Dis 32, 10 |
</figtable>
Furthermore, the following five mutations from dbSNP were added: <figtable id="mutds">
| Missense mutations (SNPs) from dbSNP | |||||
|---|---|---|---|---|---|
| Reference SNP | Codon change | Sequence position | Amino acid change | Codon number | Phenotype |
| x | x | x | x | x | x |
| rs2037639 | A-G | 101 | x | x | x |
| rs=140945592 | GAG-TAG | 251 | Glu-Ter[*] [AMB] | x | x |
| rs7970760 | C-G | 305 | x | x | x |
| rs1568791 | C-T | 467 | x | x | x |
</figtable>
References
<references/>
