Sequence-based mutation analysis (Phenylketonuria)
From Bioinformatikpedia
Summary
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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 | Amino acid change | Codon number | Reference |
| CM000542 | CAG-CTG | Gln-Leu | 20 | Hennermann (2000) Hum Mutat 15, 254 |
| CM045080 | tGGT-AGT | Gly-Ser | 103 | Lee (2004) J Hum Genet 49, 617 |
| CM910286 | GCC-GTC | Ala-Val | 259 | Labrune (1991) Am J Hum Genet 48, 1115 |
| CM087278 | ACAa-ACG | Thr-Thr | 323 | Ho (2008) Biochem Biophys Res Commun 373, 515 |
| CM090791 | CCA-CAA | Pro-Gln | 416 | 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 | Amino acid change | Position | Length |
| rs199475638 | AAA-AAG | Lys-Lys | 51 | 101 |
| rs2037639 | A-G | x | 101 | 201 |
| rs=140945592 | GAG-TAG | Glu-Ter[*] [AMB] | 251 | 501 |
| rs7970760 | C-G | x | 305 | 680 |
| rs1568791 | C-T | x | 467 | 737 |
</figtable>
References
<references/>
