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

From Bioinformatikpedia
(Mutation dataset)
(Mutation dataset)
Line 55: Line 55:
 
|}
 
|}
 
</figtable>
 
</figtable>
  +
  +
===Investigate the mutations===
   
 
== References ==
 
== References ==

Revision as of 09:20, 27 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 ?
rs199475681 AGA⇒ATA 368 Arg(R)-Ile(I) 123 ?
rs62508752 ACA⇒CCA 796 Thr(T)-Ala(A) 266 Phenylketonuria
rs199475695 TTT⇒TCT 1175 Phe(F)-Ser(S) 392 ?
rs199475696 ATT⇒ACT 1262 Ile(I)-Thr(T) 421 ?

</figtable>

Investigate the mutations

References

<references/>