Difference between revisions of "Task 5: Mapping point mutations"
(→HGMD) |
(→HGMD) |
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* Searched for PAH |
* Searched for PAH |
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* 429 Missense/Nonsense mutations known by HGMD Professional |
* 429 Missense/Nonsense mutations known by HGMD Professional |
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| + | There are several mutation types known for PAH: |
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| + | * Missense/nonsense |
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| + | * Splicing |
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| + | * Regulatory |
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| + | * Small deletions |
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| + | * Small insertions |
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| + | * Small indels |
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| + | * Gross deletions |
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| + | * Gross insertions/duplications |
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| + | * Complex rearrangements |
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| + | |||
| + | One additional category of mutation is known, but is not recorded for PAH |
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| + | * Repeat variations |
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==== Reference Sequence ==== |
==== Reference Sequence ==== |
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Revision as of 19:38, 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
There are several mutation types known for PAH:
- Missense/nonsense
- Splicing
- Regulatory
- Small deletions
- Small insertions
- Small indels
- Gross deletions
- Gross insertions/duplications
- Complex rearrangements
One additional category of mutation is known, but is not recorded for PAH
- Repeat variations
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
