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

From Bioinformatikpedia
(HGMD)
(HGMD)
Line 6: Line 6:
 
* [http://www.hgmd.cf.ac.uk/ HGMD]
 
* [http://www.hgmd.cf.ac.uk/ HGMD]
 
* Searched for PAH
 
* Searched for PAH
* 429 Missense/Nonsense mutations known by HGMD
+
* 429 Missense/Nonsense mutations known by HGMD Professional
   
 
==== Reference Sequence ====
 
==== Reference Sequence ====
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:
  +
 
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEEN
 
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEEN
 
DVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDI
 
DVNLTHIESRPSRLKKDEYEFFTHLDKRSLPALTNIIKILRHDI

Revision as of 19:34, 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

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