Difference between revisions of "PAH T278N"

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(Created page with "== Source == If a mutation was not listed in HGMD but in dbSNP, it was defined as neutral. * [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD] * [http://www.ncbi.nlm.nih.gov/p…")
 
 
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== Source ==
 
== Source ==
If a mutation was not listed in HGMD but in dbSNP, it was defined as neutral.
+
If a mutation was annotated to cause hyperphenylalaninaemia in HGMD, it was defined as a hyperphenylalaninaemia causing mutation.
 
* [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD]
 
* [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD]
 
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP]
 
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP]
   
 
== Literature ==
 
== Literature ==
  +
The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria.
Neutral mutation.
 
  +
* [http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=8268925&dopt=Abstract Guldberg (1993) Hum Mol Genet 2, 1703]
  +
* [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD]
 
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP]
 
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP]
   

Latest revision as of 15:41, 17 August 2011

Source

If a mutation was annotated to cause hyperphenylalaninaemia in HGMD, it was defined as a hyperphenylalaninaemia causing mutation.

Literature

The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria.

Predictions

For the mutation were several predictions done.