Question: Predicting functional effects of a mutation
2
gravatar for jan
5.1 years ago by
jan120
Sydney, Australia
jan120 wrote:

I would like to know how to predict the functional effect of a SNP/ mutation given only the codon number and the mismatch. 

For example, I only have this information:  gene:p53; codon 244: GGC to AGC, Gly to Ser

 

 

snp next-gen codon • 2.3k views
ADD COMMENTlink modified 5.1 years ago by Czh3190 • written 5.1 years ago by jan120
3
gravatar for Czh3
5.1 years ago by
Czh3190
China
Czh3190 wrote:

First, your should know the version of the gene annotation used, and than, calculate the  chromosome coordinates of this SNP. AND try this:

SIFT 

http://sift.jcvi.org/

ployphen2

http://genetics.bwh.harvard.edu/pph2/

ADD COMMENTlink modified 5.1 years ago • written 5.1 years ago by Czh3190

How do I calculate the chromosome coordinates based on the codon number ? all the introns were taken excluded so I can't just simply use the codon number . Any idea ?

ADD REPLYlink written 5.0 years ago by jan120
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