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

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(→‎Mutation dataset)
(→‎Mutation dataset)
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{| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center"
  
{| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center"
 
|-
  
|-
−
! colspan="5" style="background:#228B22;" | Missense mutations (SNPs) from HGMD
 +
! colspan="7" style="background:#228B22;" | Missense mutations (SNPs) from HGMD
 
|-
  
|-
 
! style="background:#32CD32;" | Accession Number
  
! style="background:#32CD32;" | Accession Number
 
! style="background:#32CD32;" | Codon change
  
! style="background:#32CD32;" | Codon change
  +
! style="background:#32CD32;" | Sequence position
 
! style="background:#32CD32;" | Amino acid change
  
! style="background:#32CD32;" | Amino acid change
 
! style="background:#32CD32;" | Codon number
  
! style="background:#32CD32;" | Codon number
  +
! style="background:#32CD32;" | Phenotype
 
! style="background:#32CD32;" | Reference
 
! style="background:#32CD32;" | Reference
 
|-
  
|-
−
| 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]
 +
| CM000542 || CAG-CTG || x || Gln-Leu || 20 || Hyperphenylalaninaemia || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=10679941&dopt=Abstract Hennermann (2000) Hum Mutat 15, 254]
 
|-
  
|-
−
| 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]
 +
| CM045080 || tGGT-AGT || x || Gly-Ser || 103 || Phenylketonuria || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=15503242&dopt=Abstract Lee (2004) J Hum Genet 49, 617]
 
|-
  
|-
−
| 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]
 +
| CM910286 || GCC-GTC || x || Ala-Val || 259 || Phenylketonuria || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=2035532&dopt=Abstract Labrune (1991) Am J Hum Genet 48, 1115]
 
|-
  
|-
−
| 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]
 +
| CM087278 || ACAa-ACG || x || Thr-Thr || 323 || Increased activity || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=18590700&dopt=Abstract Ho (2008) Biochem Biophys Res Commun 373, 515]
 
|-
  
|-
−
| 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]
 +
| CM090791 || CCA-CAA || x || Pro-Gln || 416 || Hyperphenylalaninaemia || [http://www.ncbi.nlm.nih.gov/pubmed?cmd=Retrieve&list_uids=18937047&dopt=Abstract Dobrowolski (2009) J Inherit Metab Dis 32, 10]
 
|}
  
|}
 
</figtable>
  
</figtable>
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! style="background:#32CD32;" | Reference SNP
  
! style="background:#32CD32;" | Reference SNP
 
! style="background:#32CD32;" | Codon change
  
! style="background:#32CD32;" | Codon change
  +
! style="background:#32CD32;" | Sequence position
 
! style="background:#32CD32;" | Amino acid change
  
! style="background:#32CD32;" | Amino acid change
−
! style="background:#32CD32;" | Position
 +
! style="background:#32CD32;" | Codon number
  +
! style="background:#32CD32;" | Phenotype
 
|-
  
|-
  +
| x || x || x || x || x || x
−
| [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=2037639 rs2037639] || A-G || x || 101
 +
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2037639 rs2037639] || A-G || 101 || x || x || x
 
|-
  
|-
−
| [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 || 251 || Glu-Ter[*] [AMB] || x || x
 
|-
  
|-
−
| [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 || 305 || x || x || x
 
|-
  
|-
−
| [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 || 467 || x || x || x
 
|}
  
|}
 
</figtable>
  
</figtable>

Revision as of 16:42, 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 x Gln-Leu 20 Hyperphenylalaninaemia Hennermann (2000) Hum Mutat 15, 254
CM045080 tGGT-AGT x Gly-Ser 103 Phenylketonuria Lee (2004) J Hum Genet 49, 617
CM910286 GCC-GTC x Ala-Val 259 Phenylketonuria Labrune (1991) Am J Hum Genet 48, 1115
CM087278 ACAa-ACG x Thr-Thr 323 Increased activity Ho (2008) Biochem Biophys Res Commun 373, 515
CM090791 CCA-CAA x Pro-Gln 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/>

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