Disease Causing Mutations Databases
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11.1 years ago
mithrado ▴ 10

Hello biostar,

Which is you favourite database in the disease causing mutations? My interest is in mutation in coding regions, since I work with post translational modification.

mutation • 3.0k views
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I use OMIM if you count that in http://www.ncbi.nlm.nih.gov/omim and sometimes, if my variants is known, I might be able to find the disease information in the dbsnp if I am lucky enough http://www.ncbi.nlm.nih.gov/SNP/

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In what organism?

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I am looking at some specific proteins in human, mice, rat. No organism focus. The truth is I would like to use the Enseble data for variants without the need to translate DNA -> Protein myself.

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the second link is almost three and a half years old - it is very unlikely that it would be updated with recent information, as for the first link its title does not seem relevant even if its content may be so, again unlikely to be found by search

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