Difference between revisions of "Gaucher Disease: Task 08 - LabJournal"

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(Chooosing Mutations)
(Chooosing Mutations)
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==Chooosing Mutations==
 
==Chooosing Mutations==
The cDNA sequence used by HGMD has the accession nr. NM_001005741.2). The one letter code of this cDNA has a 100% sequence identity to the reference sequence of Uniprot, which we used for all tasks. Therefore,the exact positions of the mutations listed by HGMD can be taken.
+
The cDNA sequence used by HGMD has the accession nr. NM_001005741.2). The one letter code of this cDNA has a 100% sequence identity to the reference sequence of Uniprot, which we used for all tasks. Therefore,the exact positions of the mutations listed by HGMD can be taken. The accession number is also listed by dbSNP, so that the right mutation position can be seen.
   
 
To choose five mutations from dbSNP we searched for non-synonymous snps:
 
To choose five mutations from dbSNP we searched for non-synonymous snps:
"missense"[Function_Class] AND GBA[GENE] AND "human"[ORGN] AND "snp"[SNP_CLASS]
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"missense"[Function_Class] AND GBA[GENE] AND "human"[ORGN] AND "snp"[SNP_CLASS]
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The first five snp entries were taken.
  +
  +
For HGMD

Revision as of 14:20, 6 August 2013

Chooosing Mutations

The cDNA sequence used by HGMD has the accession nr. NM_001005741.2). The one letter code of this cDNA has a 100% sequence identity to the reference sequence of Uniprot, which we used for all tasks. Therefore,the exact positions of the mutations listed by HGMD can be taken. The accession number is also listed by dbSNP, so that the right mutation position can be seen.

To choose five mutations from dbSNP we searched for non-synonymous snps:

"missense"[Function_Class] AND GBA[GENE] AND "human"[ORGN] AND "snp"[SNP_CLASS]

The first five snp entries were taken.

For HGMD