Difference between revisions of "Gaucher Disease: Task 07 - Research SNPs"
From Bioinformatikpedia
(Created page with "==HGMD== blub ==dbSNP== blub ==SNPdbe== ==Mutation map==") |
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==HGMD== |
==HGMD== |
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blub |
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+ | In HGMD, look for missense and nonsense mutations (HGMD does not list silent point mutations). |
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==dbSNP== |
==dbSNP== |
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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. |
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==SNPdbe== |
==SNPdbe== |
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+ | |||
+ | 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. |
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==Mutation map== |
==Mutation map== |
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+ | 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
Contents
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).