Difference between revisions of "Task 5: Mapping point mutations"
From Bioinformatikpedia
(→HGMD) |
(→HGMD) |
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* [http://www.hgmd.cf.ac.uk/ HGMD] |
* [http://www.hgmd.cf.ac.uk/ HGMD] |
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* Searched for PAH |
* Searched for PAH |
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| − | * 429 Missense/Nonsense mutations known by HGMD |
+ | * 429 Missense/Nonsense mutations known by HGMD Professional |
==== Reference Sequence ==== |
==== Reference Sequence ==== |
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| − | The reference sequence is given by the accession number NM_000277.1 |
+ | The reference sequence is given by the accession number NM_000277.1, |
| + | whose entry contains the following amino acid sequence: |
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| + | |||
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEEN |
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEEN |
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DVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDI |
DVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDI |
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Revision as of 19:34, 14 June 2011
Contents
Task description
A detailed task description can be found here: Mapping point mutations
SNP databases
HGMD
- HGMD
- Searched for PAH
- 429 Missense/Nonsense mutations known by HGMD Professional
Reference Sequence
The reference sequence is given by the accession number NM_000277.1, whose entry contains the following amino acid sequence:
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEEN DVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDI GATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCG FHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPM YTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLC KQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESF NDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQK IK
