Difference between revisions of "PAH R71H"
From Bioinformatikpedia
(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 == |
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| − | If a mutation was not |
+ | If a mutation was listed in dbSNP and not annotated in HGMD to cause phenylketonuria, it was defined as neutral. |
* [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD] |
* [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PAH HGMD] |
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* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] |
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] |
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== Literature == |
== Literature == |
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| + | The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria. |
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| − | Neutral mutation. |
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| + | * [http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10495930&dopt=Abstract|Zekanowski (1999) Genet Test 3, 297] |
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* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] |
* [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP] |
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Revision as of 14:15, 17 August 2011
Source
If a mutation was listed in dbSNP and not annotated in HGMD to cause phenylketonuria, it was defined as neutral.
Literature
The mutation causes hyperphenylalaninaemia, a mild form of phenylketonuria.
Predictions
For the mutation were several predictions done.
