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

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(Chooosing Mutations)
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==Chooosing Mutations==
 
==Chooosing Mutations==
The sequence used by HGMD, which was transformed into the one letter code, 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.
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The sequence used by HGMD (), which was transformed into the one letter code, 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.
  +
  +
To choose five mutations from dbSNP we searched for non-synonymous snps the following way:
  +
"missense"[Function_Class] AND GBA[GENE] AND "human"[ORGN] AND "snp"[SNP_CLASS]

Revision as of 13:59, 6 August 2013

Chooosing Mutations

The sequence used by HGMD (), which was transformed into the one letter code, 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.

To choose five mutations from dbSNP we searched for non-synonymous snps the following way: "missense"[Function_Class] AND GBA[GENE] AND "human"[ORGN] AND "snp"[SNP_CLASS]