Difference between revisions of "Sequence-based mutation analysis (Phenylketonuria)"

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(→‎Sequence-based mutation analysis)
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== Sequence-based mutation analysis ==
  
== Sequence-based mutation analysis ==
 
=== Mutation dataset ===
  
=== Mutation dataset ===
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For the generation of the mutation dataset the following SNPs from the [http://www.hgmd.org/ HGMD] database were used:
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...
  
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<figtable id="mutds">
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{| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center"
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|-
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! colspan="5" style="background:#228B22;" | Missense mutations from HGMD
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|-
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! style="background:#32CD32;" | Accession Number
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! style="background:#32CD32;" | Codon change
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! style="background:#32CD32;" | Amino acid change
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! style="background:#32CD32;" | Codon number
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! style="background:#32CD32;" | Reference
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|-
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| CM000542 || CAG-CTG || Gln-Leu || 20 || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=10679941&dopt=Abstract Hennermann (2000) Hum Mutat 15, 254]
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|-
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| CM045080 || tGGT-AGT || Gly-Ser || 103|| [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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|-
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| CM910286 || GCC-GTC || Ala-Val || 259 || [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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|-
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| CM087278 || ACAa-ACG || Thr-Thr || 323 || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=18590700&dopt=Abstract Ho (2008) Biochem Biophys Res Commun 373, 515]
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|-
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| CM090791 || CCA-CAA || Pro-Gln || 416 || [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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|}
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</figtable>
   
 
== References ==
  
== References ==

Revision as of 13:55, 25 June 2013

Summary

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Sequence-based mutation analysis

Mutation dataset

For the generation of the mutation dataset the following SNPs from the HGMD database were used: <figtable id="mutds">

Missense mutations 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>

References

<references/>

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