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

From Bioinformatikpedia
(→‎Sequence-based mutation analysis)
(→‎Mutation dataset)
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! 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;" | Disease
 
! style="background:#32CD32;" | Reference
 
! style="background:#32CD32;" | Reference
 
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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()-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]
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! 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;" | Disease
  +
|-
  +
| [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
 
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| x || x || x || x || x || x
  
| x || x || x || x || x || x
 
|-
  
|-
−
| [http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=2037639 rs2037639] || A-G || 101 || x || x || x
+
| x || x || x || x || x || x
 
|-
  
|-
  +
| x || x || x || x || x || x
−
| [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 || 305 || x || x || x
 +
| x || x || x || x || x || x
−
|-
  
−
| [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 17:50, 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 Disease 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(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: <figtable id="mutds">

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 none
x x x x x x
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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