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

From Bioinformatikpedia
(→‎Mutation dataset)
(→‎Mutation dataset)
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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 five 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 (25th June 2013):
−
<figtable id="mutds">
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<figtable id="mutds_hgmd">
 
{| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center"
  
{| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center"
 
|-
  
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! style="background:#32CD32;" | Reference
 
! style="background:#32CD32;" | Reference
 
|-
  
|-
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| 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]
 +
| 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 || 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]
 +
| CM045080 || <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 || 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]
 +
| 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(K)-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]
 +
| CM010981 || A<span style="background:#00FF00">A</span>G⇒A<span style="background:#00FF00">C</span>G || 1022 || Lys(K)-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 || 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]
 +
| 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]
 
|}
  
|}
 
</figtable>
  
</figtable>
   
  +
−
Furthermore, the following five mutations from [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] were added:
  
  +
Furthermore, the following five mutations from [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] were added (25th June 2013):
−
<figtable id="mutds">
  
  +
<figtable id="mutds_dbSNP">
 
{| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center"
  
{| border="1" style="text-align:center;" cellpadding="5" cellspacing="0" align="center"
 
|-
  
|-
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! style="background:#32CD32;" | Disease
  
! style="background:#32CD32;" | Disease
 
|-
  
|-
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| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199475569 rs199475569] || <span style="background:#00FF00">C</span>AC-<span style="background:#00FF00">A</span>AC || 190 || His(H)-Asn(N) || 64 || none
 +
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=199475569 rs199475569] || <span style="background:#00FF00">C</span>AC⇒<span style="background:#00FF00">A</span>AC || 190 || His(H)-Asn(N) || 64 || ?
 
|-
  
|-
  +
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=62508752 rs62508752] || <span style="background:#00FF00">A</span>CA⇒<span style="background:#00FF00">C</span>CA || 796 || Thr(T)-Ala(A) || 266 || ?
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| x || x || x || x || x || x
  
 
|-
  
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| x || x || x || x || x || x
  
| x || x || x || x || x || x

Revision as of 18:07, 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 (25th June 2013): <figtable id="mutds_hgmd">

Missense mutations (SNPs) from HGMD
Accession Number Codon change Sequence position Amino acid change Codon number Disease Reference
CM000542 CAG⇒CTG 59 Gln(Q)-Leu(L) 20 Hyperphenylalaninaemia Hennermann (2000) Hum Mutat 15, 254
CM045080 GGT⇒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(K)-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 (25th June 2013): <figtable id="mutds_dbSNP">

Missense mutations (SNPs) from dbSNP
Reference SNP Codon change Sequence position Amino acid change Codon number Disease
rs199475569 CAC⇒AAC 190 His(H)-Asn(N) 64 ?
rs62508752 ACA⇒CCA 796 Thr(T)-Ala(A) 266 ?
x x x x x x
x x x x x x
x x x x x x

</figtable>

References

<references/>

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