Difference between revisions of "Sequence-based mutation analysis (Phenylketonuria)"
From Bioinformatikpedia
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! style="background:#32CD32;" | Reference |
! style="background:#32CD32;" | Reference |
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| − | | CM000542 || |
+ | | CM000542 || C<span style="background:#00FF00">A</span>G-C<span style="background:#00FF00">T</span>G || 59 || Gln(Q)-Leu(L) || 20 || Hyperphenylalaninaemia || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=10679941&dopt=Abstract Hennermann (2000) Hum Mutat 15, 254] |
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| − | | CM045080 || |
+ | | CM045080 || t<span style="background:#00FF00">G</span>GT-<span style="background:#00FF00">A</span>GT || 307 || Gly(G)-Ser(S) || 103 || Phenylketonuria || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=15503242&dopt=Abstract Lee (2004) J Hum Genet 49, 617] |
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| − | | CM910286 || |
+ | | CM910286 || G<span style="background:#00FF00">C</span>C-G<span style="background:#00FF00">T</span>C || 776 || Ala(A)-Val(V) || 259 || Phenylketonuria || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=2035532&dopt=Abstract Labrune (1991) Am J Hum Genet 48, 1115] |
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| − | | |
+ | | CM010981 || A<span style="background:#00FF00">A</span>G-A<span style="background:#00FF00">C</span>G || 1022 || Lys()-Thr(T) || 341 || Phenylketonuria || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=9012412&dopt=Abstract Tyfield (1997) Am J Hum Genet 60, 388] |
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| − | | CM090791 || |
+ | | CM090791 || C<span style="background:#00FF00">C</span>A-C<span style="background:#00FF00">A</span>A || 1247 || Pro(P)-Gln(Q) || 416 || Hyperphenylalaninaemia || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=18937047&dopt=Abstract Dobrowolski (2009) J Inherit Metab Dis 32, 10] |
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</figtable> |
</figtable> |
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| − | ! colspan=" |
+ | ! colspan="6" style="background:#228B22;" | Missense mutations (SNPs) from dbSNP |
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! style="background:#32CD32;" | Reference SNP |
! style="background:#32CD32;" | Reference SNP |
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Revision as of 17:11, 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 | Sequence position | Amino acid change | Codon number | Phenotype | 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()-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 | 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/>
