Difference between revisions of "Sequence-based mutation analysis (Phenylketonuria)"
From Bioinformatikpedia
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! style="background:#32CD32;" | Amino acid change |
! style="background:#32CD32;" | Amino acid change |
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! style="background:#32CD32;" | Position |
! style="background:#32CD32;" | Position |
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| − | ! style="background:#32CD32;" | Length |
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|- |
|- |
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| − | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199475638 rs199475638] || AAA-AAG || Lys-Lys || 51 |
+ | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199475638 rs199475638] || AAA-AAG || Lys-Lys || 51 |
|- |
|- |
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| − | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2037639 rs2037639] || A-G || x || 101 |
+ | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2037639 rs2037639] || A-G || x || 101 |
|- |
|- |
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| − | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140945592 rs=140945592] || GAG-TAG || Glu-Ter[*] [AMB] || 251 |
+ | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=140945592 rs=140945592] || GAG-TAG || Glu-Ter[*] [AMB] || 251 |
|- |
|- |
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| − | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7970760 rs7970760] || C-G || x || 305 |
+ | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=7970760 rs7970760] || C-G || x || 305 |
|- |
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| − | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1568791 rs1568791] || C-T || x || 467 |
+ | | [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=1568791 rs1568791] || C-T || x || 467 |
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|} |
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</figtable> |
</figtable> |
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Revision as of 16:13, 25 June 2013
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 | 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 | |
| rs199475638 | AAA-AAG | Lys-Lys | 51 | |
| rs2037639 | A-G | x | 101 | |
| rs=140945592 | GAG-TAG | Glu-Ter[*] [AMB] | 251 | |
| rs7970760 | C-G | x | 305 | |
| rs1568791 | C-T | x | 467 | |
</figtable>
References
<references/>
