Difference between revisions of "Task 5: Mapping point mutations"
From Bioinformatikpedia
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== SNP databases == |
== SNP databases == |
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=== HGMD === |
=== HGMD === |
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| + | * [http://www.hgmd.cf.ac.uk/ HGMD] |
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| + | * Searched for PAH |
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| + | * 429 Missense/Nonsense mutations known by HGMD |
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| + | |||
==== Reference Sequence ==== |
==== Reference Sequence ==== |
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| + | The reference sequence is given by the accession number NM_000277.1 |
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| + | MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEEN |
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| + | DVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDI |
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| + | GATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ |
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| + | FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCG |
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| + | FHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPM |
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| + | YTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLC |
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| + | KQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESF |
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| + | NDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQK |
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| + | IK |
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==== SNPs ==== |
==== SNPs ==== |
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Revision as of 19:33, 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
Reference Sequence
The reference sequence is given by the accession number NM_000277.1 MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEEN DVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDI GATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCG FHEDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPM YTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKLATIYWFTVEFGLC KQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESF NDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQK IK
