Difference between revisions of "Sequence-based mutation analysis (Phenylketonuria)"
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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 || ? |
| [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 || ? |
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| − | | [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 || |
+ | | [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 || Phenylketonuria |
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Revision as of 18:12, 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 | Phenylketonuria |
| x | x | x | x | x | x |
| x | x | x | x | x | x |
| x | x | x | x | x | x |
</figtable>
References
<references/>
