Difference between revisions of "Task 5: Mapping point mutations"

From Bioinformatikpedia
(HGMD)
(HGMD)
Line 7: Line 7:
 
* Searched for PAH
 
* Searched for PAH
 
* 429 Missense/Nonsense mutations known by HGMD Professional
 
* 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 ====
 
==== Reference Sequence ====

Revision as of 19:38, 14 June 2011

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

SNPs

SNPdb

Reference Sequence

SNPs

Comparing the annotation of HGMD and SNPdb

Alignment of the reference sequences

Mapping

Discussion