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 | Sequence position | Amino acid change | Codon number | Disease | Reference |
| CM000542 | CAG-CTG | 59 | Gln(Q)-Leu(L) | 20 | Hyperphenylalaninaemia | Hennermann (2000) Hum Mutat 15, 254 |
| CM045080 | tGGT-AGT | 307 | Gly(G)-Ser(S) | 103 | Phenylketonuria | Lee (2004) J Hum Genet 49, 617 |
| CM910286 | GCC-GTC | 776 | Ala(A)-Val(V) | 259 | Phenylketonuria | Labrune (1991) Am J Hum Genet 48, 1115 |
| CM010981 | AAG-ACG | 1022 | Lys(K)-Thr(T) | 341 | Phenylketonuria | Tyfield (1997) Am J Hum Genet 60, 388 |
| CM090791 | CCA-CAA | 1247 | Pro(P)-Gln(Q) | 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 | Disease |
| rs199475569 | CAC-AAC | 190 | His(H)-Asn(N) | 64 | none |
| x | x | x | x | x | x |
| x | x | x | x | x | x |
| x | x | x | x | x | x |
| x | x | x | x | x | x |
</figtable>
References
<references/>
