Difference between revisions of "Gaucher Disease: Task 07 - Research SNPs"

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(Created page with "==HGMD== blub ==dbSNP== blub ==SNPdbe== ==Mutation map==")
 
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==HGMD==
 
==HGMD==
 
blub
 
blub
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In HGMD, look for missense and nonsense mutations (HGMD does not list silent point mutations).
   
 
==dbSNP==
 
==dbSNP==
 
blub
 
blub
  +
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In dbSNP, look for silent (point) mutations. In most cases, significantly more than 100 mutations are known. The residue numbers in the databases may not correspond to each other.
   
 
==SNPdbe==
 
==SNPdbe==
  +
  +
In SNPdbe, look for disease causing mutations and those that have no effect (often not verified). Please disregard the two colums "Predicted functional effect" for this week.
   
 
==Mutation map==
 
==Mutation map==
  +
Extract information for your protein/disease from the databases. Are there mutation hot-spots? Map approximately 100 point mutations onto your protein sequence (disease and non-disease causing).

Revision as of 19:38, 23 June 2013

HGMD

blub

In HGMD, look for missense and nonsense mutations (HGMD does not list silent point mutations).

dbSNP

blub

In dbSNP, look for silent (point) mutations. In most cases, significantly more than 100 mutations are known. The residue numbers in the databases may not correspond to each other.

SNPdbe

In SNPdbe, look for disease causing mutations and those that have no effect (often not verified). Please disregard the two colums "Predicted functional effect" for this week.

Mutation map

Extract information for your protein/disease from the databases. Are there mutation hot-spots? Map approximately 100 point mutations onto your protein sequence (disease and non-disease causing).