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

From Bioinformatikpedia
(→‎Sequence-based mutation analysis)
(→‎Mutation dataset)
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== Sequence-based mutation analysis ==
  
== Sequence-based mutation analysis ==
 
=== Mutation dataset ===
  
=== Mutation dataset ===
−
For the generation of the mutation dataset the following SNPs from the [http://www.hgmd.org/ HGMD] database were used:
+
For the generation of the mutation dataset the following five SNPs from the [http://www.hgmd.org/ HGMD] database were used:
 
<figtable id="mutds">
  
<figtable id="mutds">
 
{| 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 from HGMD
 +
! colspan="5" style="background:#228B22;" | Missense mutations (SNPs) from HGMD
 
|-
  
|-
 
! style="background:#32CD32;" | Accession Number
  
! style="background:#32CD32;" | Accession Number
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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]
  
| 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]
  +
|}
  +
</figtable>
  +
  +
Furthermore, the following five mutations from [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] were added:
  +
<figtable id="mutds">
  +
{| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center"
  +
|-
  +
! colspan="5" style="background:#228B22;" | Missense mutations (SNPs) from dbSNP
  +
|-
  +
! style="background:#32CD32;" | Accession Number
  +
! style="background:#32CD32;" | rs2
  +
! style="background:#32CD32;" | Position
  +
! style="background:#32CD32;" | Length
  +
! style="background:#32CD32;" | Codon change
  +
|-
  +
| rs199475638 || rs=199475638 || 51 || 101 || A-G
  +
|-
  +
| rs2037639 || rs=2037639 || 101 || 201 || A-G
  +
|-
  +
| rs188801585 || rs=188801585 || 201 || 401 || G-T
  +
|-
  +
| rs7970760 || rs=7970760 || 305 || 680 || C-G
  +
|-
  +
| rs1568791 || rs=1568791 || 467 || 737 || C-T
 
|}
  
|}
 
</figtable>
  
</figtable>

Revision as of 15:03, 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
Accession Number rs2 Position Length Codon change
rs199475638 rs=199475638 51 101 A-G
rs2037639 rs=2037639 101 201 A-G
rs188801585 rs=188801585 201 401 G-T
rs7970760 rs=7970760 305 680 C-G
rs1568791 rs=1568791 467 737 C-T

</figtable>

References

<references/>

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